P28A (p.Pro28Ala) variant of MLH1 (DNA mismatch repair protein Mlh1)
P28A (p.Pro28Ala) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in LYNCH2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
P28A (p.Pro28Ala) variant details
- p.Pro28Ala
- Ensembl rs1559500757
- Uncertain significance
- in LYNCH2
- Missense
- Variant Prioritization Score for Impact Estimate 0.93
- ESM-1b 1.00
- AlphaMissense 0.85
- EBI: Variant of uncertain significance (in LYNCH2)
- UniProt: Uncertain significance (in LYNCH2)
- Structural context available