D19Y (p.Asp19Tyr) variant of MSH6 (DNA mismatch repair protein Msh6)
D19Y (p.Asp19Tyr) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
D19Y (p.Asp19Tyr) variant details
- p.Asp19Tyr
- rs1668113424
- ClinGen CA346734556
- ClinVar RCV002344897
- TOPMed rs1668113424
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.19
- MetaLR 0.37
- MetaSVM -0.66
- CADD 17.70
- PolyPhen-2 0.02
- SIFT 0.12
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)