S14A (p.Ser14Ala) variant of MSH3 (DNA mismatch repair protein Msh3)
S14A (p.Ser14Ala) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
S14A (p.Ser14Ala) variant details
- p.Ser14Ala
- rs2112797022
- ClinGen CA360264853
- ClinVar RCV004513713
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- AlphaMissense 0.07
- MetaLR 0.33
- MetaSVM -0.79
- PolyPhen-2 0.17
- SIFT 0.01
- MutPred 0.12
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)