The following information is based on PON-P2 mutation pathogenicity prediction software results. Cluster 3 mutation with a non-cluster-mapping mutation (SNP) Q968E PON-P2 predictions results for Q968E | Pathogenicity: | Pathogenic | Probability: | 0.775 | Standard Error: | 0.06 | Prediction result is based on sequence analysis only and may not be accurate. |
Risk of POLG-related syndromes exists. Mutation pathogenicity prediction suggests that this mutation could be pathogenic. Predicted chance of pathogenicity is 77.5%. See further details for residue 968. All mutations mapping into the pathogenic clusters are in high risk of being pathogenic. As a rule, a patient must have a pathogenic mutation in both of his/ her POLG genes to develop a POLG-related syndrome. |