S15F (p.Ser15Phe) variant of MLH3 (DNA mismatch repair protein Mlh3)
S15F (p.Ser15Phe) in MLH3 (DNA mismatch repair protein Mlh3) 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 0.86 / 1. The record also includes population frequency data and structural context.
S15F (p.Ser15Phe) variant details
- p.Ser15Phe
- rs1424606217
- ClinGen CA390451859
- ClinVar RCV004243253
- TOPMed rs1424606217
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- AlphaMissense 0.64
- MetaLR 0.90
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.70
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available