K5M (p.Lys5Met) variant of MSH3 (DNA mismatch repair protein Msh3)
K5M (p.Lys5Met) 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 Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
K5M (p.Lys5Met) variant details
- p.Lys5Met
- rs1275624430
- ClinGen CA360264776
- ClinVar RCV001224174
- ClinVar RCV002393546
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.47
- AlphaMissense 0.40
- MetaLR 0.71
- MetaSVM 0.53
- CADD 27.10
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- 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)