V7D (p.Val7Asp) variant of MLH3 (DNA mismatch repair protein Mlh3)
V7D (p.Val7Asp) 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 0.27 / 1. The record also includes population frequency data and structural context.
V7D (p.Val7Asp) variant details
- p.Val7Asp
- rs1249743272
- ClinGen CA390452776
- ClinVar RCV004060321
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.38
- CADD 8.14
- PolyPhen-2 0.00
- SIFT 0.28
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available