S30A (p.Ser30Ala) variant of MSH3 (DNA mismatch repair protein Msh3)
S30A (p.Ser30Ala) 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 Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
S30A (p.Ser30Ala) variant details
- p.Ser30Ala
- rs1749192322
- ClinGen CA360265264
- ClinVar RCV001217113
- ClinVar RCV002375191
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.11
- AlphaMissense 0.07
- MetaLR 0.39
- MetaSVM -0.75
- CADD 15.10
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)