S9R (p.Ser9Arg) variant of MSH6 (DNA mismatch repair protein Msh6)
S9R (p.Ser9Arg) 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 not provided; Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis c. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S9R (p.Ser9Arg) variant details
- p.Ser9Arg
- rs1572697773
- ClinGen CA346734509
- cosmic curated COSV52284
- ClinVar RCV001016638
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis c
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.32
- MetaLR 0.48
- MetaSVM -0.24
- CADD 24.00
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Hereditar)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)