K29R (p.Lys29Arg) variant of MSH2 (DNA mismatch repair protein Msh2)
K29R (p.Lys29Arg) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
K29R (p.Lys29Arg) variant details
- p.Lys29Arg
- rs2103872428
- ClinGen CA346728711
- ClinVar RCV003182943
- Ensembl rs2103872428
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- ESM-1b 0.89
- AlphaMissense 0.30
- MetaLR 0.81
- MetaSVM 0.78
- PolyPhen-2 0.45
- SIFT 0.05
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)