D12Y (p.Asp12Tyr) variant of MLH1 (DNA mismatch repair protein Mlh1)
D12Y (p.Asp12Tyr) 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 0.83 / 1. The record also includes structural context.
D12Y (p.Asp12Tyr) variant details
- p.Asp12Tyr
- ExAC rs749548566
- gnomAD rs749548566
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.78
- MetaLR 0.62
- MetaSVM 0.42
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available