K6N (p.Lys6Asn) variant of MSH2 (DNA mismatch repair protein Msh2)
K6N (p.Lys6Asn) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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.
K6N (p.Lys6Asn) variant details
- p.Lys6Asn
- rs146017810
- ClinGen CA346728447
- ClinVar RCV001947295
- ClinVar RCV003164181
- Conflicting interpretations
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.47
- ESM-1b 1.00
- AlphaMissense 0.79
- MetaLR 0.70
- MetaSVM 0.24
- CADD 22.30
- ClinVar: Conflicting classifications of pathogenicity (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Likely benign
- UniProt: Likely benign
- 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)
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)