Q4K (p.Gln4Lys) variant of MSH2 (DNA mismatch repair protein Msh2)
Q4K (p.Gln4Lys) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
Q4K (p.Gln4Lys) variant details
- p.Gln4Lys
- rs878853797
- ClinGen CA10581987
- ClinVar RCV000227770
- ClinVar RCV000480195
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.24
- MetaLR 0.79
- MetaSVM 0.61
- CADD 22.80
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:ADYGEI population (allele frequency 0.088)
- 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)