V81L (p.Val81Leu) variant of MLH3 (DNA mismatch repair protein Mlh3)
V81L (p.Val81Leu) 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 0.42 / 1. The record also includes structural context.
V81L (p.Val81Leu) variant details
- p.Val81Leu
- rs2139610437
- ClinGen CA390451270
- ClinVar RCV004063479
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- AlphaMissense 0.07
- MetaLR 0.41
- MetaSVM -0.62
- PolyPhen-2 0.01
- SIFT 0.39
- MutPred 0.44
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available