V24D (p.Val24Asp) variant of MLH1 (DNA mismatch repair protein Mlh1)
V24D (p.Val24Asp) 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 1.00 / 1. The record also includes structural context.
V24D (p.Val24Asp) variant details
- p.Val24Asp
- ExAC rs754533438
- gnomAD rs754533438
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- ESM-1b 1.00
- AlphaMissense 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available