G16D (p.Gly16Asp) variant of MLH3 (DNA mismatch repair protein Mlh3)
G16D (p.Gly16Asp) 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 0.87 / 1. The record also includes structural context.
G16D (p.Gly16Asp) variant details
- p.Gly16Asp
- rs2139614769
- ClinGen CA390451853
- ClinVar RCV003322551
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- AlphaMissense 0.67
- MetaLR 0.90
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.73
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available