G16V (p.Gly16Val) variant of MLH3 (DNA mismatch repair protein Mlh3)
G16V (p.Gly16Val) 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 population frequency data and structural context.
G16V (p.Gly16Val) variant details
- p.Gly16Val
- rs2139614769
- ClinGen CA390451855
- ClinVar RCV004281542
- Ensembl rs2139614769
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.93
- AlphaMissense 0.67
- MetaLR 0.90
- MetaSVM 1.04
- CADD 24.60
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available