S39C (p.Ser39Cys) variant of MSH3 (DNA mismatch repair protein Msh3)
S39C (p.Ser39Cys) 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 0.44 / 1. The record also includes structural context.
S39C (p.Ser39Cys) variant details
- p.Ser39Cys
- rs2112797345
- ClinGen CA360265348
- ClinVar RCV002619652
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- AlphaMissense 0.10
- MetaLR 0.41
- MetaSVM -0.59
- PolyPhen-2 0.79
- SIFT 0.00
- MutPred 0.17
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available