V66A (p.Val66Ala) variant of MLH3 (DNA mismatch repair protein Mlh3)
V66A (p.Val66Ala) 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 0.50 / 1. The record also includes population frequency data and structural context.
V66A (p.Val66Ala) variant details
- p.Val66Ala
- rs1406012470
- ClinGen CA390451367
- ClinVar RCV004061636
- TOPMed rs1406012470
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.43
- CADD 23.30
- PolyPhen-2 0.26
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available