A22T (p.Ala22Thr) variant of MSH3 (DNA mismatch repair protein Msh3)
A22T (p.Ala22Thr) 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 0.43 / 1. The record also includes structural context.
A22T (p.Ala22Thr) variant details
- p.Ala22Thr
- rs1749190439
- ClinGen CA360265175
- ClinVar RCV003026139
- Ensembl rs1749190439
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- AlphaMissense 0.14
- MetaLR 0.40
- MetaSVM -0.74
- PolyPhen-2 0.00
- SIFT 0.25
- MutPred 0.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available