Q24R (p.Gln24Arg) variant of MSH2 (DNA mismatch repair protein Msh2)
Q24R (p.Gln24Arg) 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 cancer-predisposing syndrome. 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.
Q24R (p.Gln24Arg) variant details
- p.Gln24Arg
- rs1672236653
- ClinGen CA346728651
- ClinVar RCV001179994
- Ensembl rs1672236653
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.35
- MetaSVM -0.48
- CADD 22.40
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:DRUZE population (allele frequency 0.1)
- 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)