V7G (p.Val7Gly) variant of MLH1 (DNA mismatch repair protein Mlh1)
V7G (p.Val7Gly) in MLH1 (DNA mismatch repair protein Mlh1) 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 0.71 / 1. The record also includes population frequency data and structural context.
V7G (p.Val7Gly) variant details
- p.Val7Gly
- ExAC rs755402059
- gnomAD rs755402059
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.27
- CADD 31.00
- PolyPhen-2 0.55
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available