S2C (p.Ser2Cys) variant of MSH3 (DNA mismatch repair protein Msh3)
S2C (p.Ser2Cys) 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 0.49 / 1. The record also includes structural context.
S2C (p.Ser2Cys) variant details
- p.Ser2Cys
- rs768844493
- ClinGen CA360264744
- ClinVar RCV001963670
- ExAC rs768844493
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- AlphaMissense 0.15
- MetaLR 0.50
- MetaSVM -0.44
- PolyPhen-2 0.97
- SIFT 0.01
- MutPred 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available