V52I (p.Val52Ile) variant of MLH3 (DNA mismatch repair protein Mlh3)
V52I (p.Val52Ile) 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 0.37 / 1. The record also includes structural context.
V52I (p.Val52Ile) variant details
- p.Val52Ile
- rs2139612359
- ClinGen CA390451465
- ClinVar RCV003320327
- Ensembl rs2139612359
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- AlphaMissense 0.09
- MetaLR 0.26
- MetaSVM -0.76
- PolyPhen-2 0.10
- SIFT 0.38
- MutPred 0.47
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available