S104L (p.Ser104Leu) variant of F11 (Coagulation factor XI)
S104L (p.Ser104Leu) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S104L (p.Ser104Leu) variant details
- p.Ser104Leu
- ExAC rs745811081
- TOPMed rs745811081
- gnomAD rs745811081
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.56
- MetaSVM -0.42
- CADD 15.87
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available