S2T (p.Ser2Thr) variant of MLH1 (DNA mismatch repair protein Mlh1)
S2T (p.Ser2Thr) 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 0.27 / 1. The record also includes structural context.
S2T (p.Ser2Thr) variant details
- p.Ser2Thr
- TOPMed rs1448308275
- gnomAD rs1448308275
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- ESM-1b 0.00
- AlphaMissense 0.11
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available