D12V (p.Asp12Val) variant of MLH1 (DNA mismatch repair protein Mlh1)
D12V (p.Asp12Val) 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 0.86 / 1. The record also includes structural context.
D12V (p.Asp12Val) variant details
- p.Asp12Val
- Ensembl rs1553637200
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- ESM-1b 1.00
- AlphaMissense 0.68
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available