P781S (p.Pro781Ser) variant of MSH6 (DNA mismatch repair protein Msh6)
P781S (p.Pro781Ser) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
P781S (p.Pro781Ser) variant details
- p.Pro781Ser
- rs587779235
- ClinGen CA010084
- cosmic curated COSV99314
- ClinVar RCV002448291
- Pathogenic/Likely pathogenic
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.962
- AlphaMissense 0.97
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic/Likely pathogenic (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)