V81E (p.Val81Glu) variant of MLH3 (DNA mismatch repair protein Mlh3)
V81E (p.Val81Glu) 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 0.48 / 1. The record also includes structural context.
V81E (p.Val81Glu) variant details
- p.Val81Glu
- rs907606500
- ClinGen CA390451268
- ClinVar RCV004521161
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- AlphaMissense 0.20
- MetaLR 0.55
- MetaSVM -0.24
- PolyPhen-2 0.21
- SIFT 0.02
- MutPred 0.47
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available