S33R (p.Ser33Arg) variant of MSH3 (DNA mismatch repair protein Msh3)
S33R (p.Ser33Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S33R (p.Ser33Arg) variant details
- p.Ser33Arg
- rs772142059
- ClinGen CA3327434
- ClinVar RCV001050847
- ClinVar RCV002374904
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.28
- CADD 21.80
- PolyPhen-2 0.12
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-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)