K13N (p.Lys13Asn) variant of MSH6 (DNA mismatch repair protein Msh6)
K13N (p.Lys13Asn) in MSH6 (DNA mismatch repair protein Msh6) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
K13N (p.Lys13Asn) variant details
- p.Lys13Asn
- rs1668112040
- ClinGen CA346734530
- ClinVar RCV002357802
- gnomAD rs1668112040
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.49
- MetaLR 0.67
- MetaSVM 0.36
- CADD 25.50
- SIFT 0.03
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Variant of uncertain significance (in dbSNP:rs41294988)
- UniProt: Uncertain significance (in dbSNP:rs41294988)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)