S2W (p.Ser2Trp) variant of MLH1 (DNA mismatch repair protein Mlh1)
S2W (p.Ser2Trp) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
S2W (p.Ser2Trp) variant details
- p.Ser2Trp
- rs587779029
- ClinGen CA352059834
- ClinVar RCV001758476
- ExAC rs587779029
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.58
- ESM-1b 1.00
- AlphaMissense 0.49
- CADD 27.20
- PolyPhen-2 0.66
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available