V52A (p.Val52Ala) variant of MLH3 (DNA mismatch repair protein Mlh3)
V52A (p.Val52Ala) 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 0.76 / 1. The record also includes population frequency data and structural context.
V52A (p.Val52Ala) variant details
- p.Val52Ala
- rs903733621
- ClinGen CA263654119
- ClinVar RCV004059119
- TOPMed rs903733621
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.85
- CADD 26.30
- PolyPhen-2 0.83
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available