G10C (p.Gly10Cys) variant of MSH3 (DNA mismatch repair protein Msh3)
G10C (p.Gly10Cys) 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.
G10C (p.Gly10Cys) variant details
- p.Gly10Cys
- rs2112796965
- ClinGen CA360264817
- ClinVar RCV001993814
- Ensembl rs2112796965
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- AlphaMissense 0.22
- MetaLR 0.56
- MetaSVM -0.48
- PolyPhen-2 0.03
- SIFT 0.01
- MutPred 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available