S14C (p.Ser14Cys) variant of MSH6 (DNA mismatch repair protein Msh6)
S14C (p.Ser14Cys) 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 cancer-predisposing syndrome; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S14C (p.Ser14Cys) variant details
- p.Ser14Cys
- rs863224628
- ClinGen CA346734534
- ClinVar RCV002327852
- ClinVar RCV005239368
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.39
- MetaLR 0.52
- MetaSVM 0.17
- CADD 23.90
- PolyPhen-2 0.17
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 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)