A7T (p.Ala7Thr) variant of MSH3 (DNA mismatch repair protein Msh3)
A7T (p.Ala7Thr) 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.
A7T (p.Ala7Thr) variant details
- p.Ala7Thr
- rs1749187065
- ClinGen CA360264789
- ClinVar RCV001207714
- Ensembl rs1749187065
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- AlphaMissense 0.12
- MetaLR 0.41
- MetaSVM -0.65
- PolyPhen-2 0.32
- SIFT 0.09
- MutPred 0.16
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available