Q10K (p.Gln10Lys) variant of MSH2 (DNA mismatch repair protein Msh2)
Q10K (p.Gln10Lys) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
Q10K (p.Gln10Lys) variant details
- p.Gln10Lys
- rs63751099
- ClinGen CA020973
- ClinVar RCV000034557
- ClinVar RCV002433492
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.21
- MetaLR 0.30
- MetaSVM -0.53
- CADD 21.20
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)