K5R (p.Lys5Arg) variant of MSH3 (DNA mismatch repair protein Msh3)
K5R (p.Lys5Arg) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
K5R (p.Lys5Arg) variant details
- p.Lys5Arg
- rs1275624430
- ClinGen CA360264775
- ClinVar RCV001071481
- ClinVar RCV005372545
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- AlphaMissense 0.40
- MetaLR 0.71
- MetaSVM 0.53
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.30
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)