S2P (p.Ser2Pro) variant of MLH1 (DNA mismatch repair protein Mlh1)
S2P (p.Ser2Pro) 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 0.26 / 1. The record also includes structural context.
S2P (p.Ser2Pro) variant details
- p.Ser2Pro
- TOPMed rs1448308275
- gnomAD rs1448308275
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- ESM-1b 0.00
- AlphaMissense 0.13
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available