R44T (p.Arg44Thr) variant of MLH3 (DNA mismatch repair protein Mlh3)
R44T (p.Arg44Thr) in MLH3 (DNA mismatch repair protein Mlh3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes structural context.
R44T (p.Arg44Thr) variant details
- p.Arg44Thr
- rs2139612937
- ClinGen CA390451519
- ClinVar RCV004058363
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- AlphaMissense 0.71
- MetaLR 0.40
- MetaSVM -0.16
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available