S15G (p.Ser15Gly) variant of MSH3 (DNA mismatch repair protein Msh3)
S15G (p.Ser15Gly) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S15G (p.Ser15Gly) variant details
- p.Ser15Gly
- rs1414195684
- ClinGen CA360265106
- ClinVar RCV001337753
- ClinVar RCV006406912
- Conflicting interpretations
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.20
- CADD 0.97
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)