K6R (p.Lys6Arg) variant of MSH2 (DNA mismatch repair protein Msh2)
K6R (p.Lys6Arg) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
K6R (p.Lys6Arg) variant details
- p.Lys6Arg
- rs1672230236
- ClinGen CA346728442
- ClinVar RCV002407866
- ClinVar RCV003097251
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.52
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.59
- MetaSVM 0.07
- CADD 22.60
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)