R21H (p.Arg21His) variant of MSH2 (DNA mismatch repair protein Msh2)
R21H (p.Arg21His) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R21H (p.Arg21His) variant details
- p.Arg21His
- rs730881760
- ClinGen CA021613
- ClinVar RCV000160594
- ClinVar RCV000539963
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.88
- MetaLR 0.76
- MetaSVM 0.61
- CADD 25.40
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:RUSSIAN population (allele frequency 0.08)
- 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)