V7A (p.Val7Ala) variant of MLH3 (DNA mismatch repair protein Mlh3)
V7A (p.Val7Ala) 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 0.25 / 1. The record also includes population frequency data and structural context.
V7A (p.Val7Ala) variant details
- p.Val7Ala
- rs1249743272
- ClinGen CA390452774
- ClinVar RCV004243261
- TOPMed rs1249743272
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.35
- CADD 7.28
- PolyPhen-2 0.00
- SIFT 0.18
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available