A20E (p.Ala20Glu) variant of MLH1 (DNA mismatch repair protein Mlh1)
A20E (p.Ala20Glu) 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.
A20E (p.Ala20Glu) variant details
- p.Ala20Glu
- gnomAD rs1391455682
- 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