S30C (p.Ser30Cys) variant of MSH3 (DNA mismatch repair protein Msh3)
S30C (p.Ser30Cys) 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 0.49 / 1. The record also includes published literature and structural context.
S30C (p.Ser30Cys) variant details
- p.Ser30Cys
- rs1580537891
- ClinGen CA360265269
- ClinVar RCV002299321
- ClinVar RCV002373084
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- AlphaMissense 0.18
- MetaLR 0.49
- MetaSVM -0.43
- PolyPhen-2 0.89
- SIFT 0.00
- MutPred 0.24
- 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)