Q24H (p.Gln24His) variant of MSH2 (DNA mismatch repair protein Msh2)
Q24H (p.Gln24His) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
Q24H (p.Gln24His) variant details
- p.Gln24His
- rs1064794928
- ClinGen CA16617547
- ClinVar RCV000479166
- ClinVar RCV000569588
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.58
- MetaSVM -0.03
- CADD 22.10
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- 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)