S99Y (p.Ser99Tyr) variant of F11 (Coagulation factor XI)
S99Y (p.Ser99Tyr) 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 not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
S99Y (p.Ser99Tyr) variant details
- p.Ser99Tyr
- gnomAD rs1210144626
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.82
- MetaLR 0.84
- MetaSVM 0.85
- CADD 26.10
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available