P157S (p.Pro157Ser) variant of F11 (Coagulation factor XI)
P157S (p.Pro157Ser) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Plasma factor XI deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
P157S (p.Pro157Ser) variant details
- p.Pro157Ser
- TOPMed rs987237958
- gnomAD rs987237958
- Uncertain significance
- Plasma factor XI deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.33
- ESM-1b 0.83
- AlphaMissense 0.11
- MetaLR 0.64
- MetaSVM -0.02
- CADD 17.53
- ClinVar: Uncertain significance (Plasma factor XI deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available