A2V (p.Ala2Val) variant of MSH2 (DNA mismatch repair protein Msh2)
A2V (p.Ala2Val) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in LYNCH1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs587778521
- ClinGen CA021548
- cosmic curated COSV10585
- ClinVar RCV000121557
- Benign
- in LYNCH1
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.88
- MetaLR 0.83
- MetaSVM 0.83
- CADD 27.50
- EBI: Benign (in LYNCH1)
- UniProt: Benign (in LYNCH1)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- 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)
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)