G25D (p.Gly25Asp) variant of MSH2 (DNA mismatch repair protein Msh2)
G25D (p.Gly25Asp) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G25D (p.Gly25Asp) variant details
- p.Gly25Asp
- rs767747378
- ClinGen CA022180
- ClinVar RCV000164134
- ClinVar RCV000525136
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.45
- ESM-1b 1.00
- AlphaMissense 0.37
- MetaLR 0.43
- MetaSVM -0.43
- CADD 21.90
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 2.4e-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)