T49I (p.Thr49Ile) variant of MLH3 (DNA mismatch repair protein Mlh3)
T49I (p.Thr49Ile) 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 0.52 / 1. The record also includes structural context.
T49I (p.Thr49Ile) variant details
- p.Thr49Ile
- rs2139612601
- ClinGen CA390451481
- ClinVar RCV004366199
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- AlphaMissense 0.14
- MetaLR 0.65
- MetaSVM 0.11
- PolyPhen-2 0.10
- SIFT 0.05
- MutPred 0.45
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available