V69L (p.Val69Leu) variant of MLH3 (DNA mismatch repair protein Mlh3)
V69L (p.Val69Leu) 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 0.36 / 1. The record also includes structural context.
V69L (p.Val69Leu) variant details
- p.Val69Leu
- rs2139611261
- ClinGen CA390451352
- ClinVar RCV004059679
- NCI-TCGA TCGA novel
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- AlphaMissense 0.46
- MetaLR 0.09
- MetaSVM -1.05
- PolyPhen-2 0.75
- SIFT 0.06
- MutPred 0.57
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available