K29N (p.Lys29Asn) variant of MSH2 (DNA mismatch repair protein Msh2)
K29N (p.Lys29Asn) 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 nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
K29N (p.Lys29Asn) variant details
- p.Lys29Asn
- rs1573423284
- ClinGen CA346728716
- ClinVar RCV001018367
- ClinVar RCV001322238
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.80
- MetaSVM 0.68
- CADD 25.10
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:CAMBODIAN 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)