T31M (p.Thr31Met) variant of MSH3 (DNA mismatch repair protein Msh3)
T31M (p.Thr31Met) 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 0.30 / 1. The record also includes population frequency data and structural context.
T31M (p.Thr31Met) variant details
- p.Thr31Met
- rs1580537911
- ClinGen CA360265279
- ClinVar RCV000824036
- Ensembl rs1580537911
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.19
- CADD 21.60
- PolyPhen-2 0.25
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available