V695A (p.Val695Ala) variant of MSH2 (DNA mismatch repair protein Msh2)
V695A (p.Val695Ala) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary nonpolyposis colorectal neoplasms; Lynch syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
V695A (p.Val695Ala) variant details
- p.Val695Ala
- rs1667306822
- ClinGen CA346729208
- cosmic curated COSV51885
- ClinVar RCV001308654
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Lynch syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.88
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Lynch syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)
- Cited in: American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. (PMID 20065170)