A20S (p.Ala20Ser) variant of MLH1 (DNA mismatch repair protein Mlh1)
A20S (p.Ala20Ser) 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 0.85 / 1. The record also includes structural context.
A20S (p.Ala20Ser) variant details
- p.Ala20Ser
- Ensembl rs1553637262
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- ESM-1b 1.00
- AlphaMissense 0.66
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available