R20T (p.Arg20Thr) variant of MSH3 (DNA mismatch repair protein Msh3)
R20T (p.Arg20Thr) 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 0.48 / 1. The record also includes structural context.
R20T (p.Arg20Thr) variant details
- p.Arg20Thr
- rs1580537787
- ClinGen CA360265158
- ClinVar RCV002005203
- Ensembl rs1580537787
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- AlphaMissense 0.09
- MetaLR 0.53
- MetaSVM 0.05
- PolyPhen-2 0.53
- SIFT 0.05
- MutPred 0.34
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available