F30C (p.Phe30Cys) variant of F11 (Coagulation factor XI)
F30C (p.Phe30Cys) 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 0.86 / 1. The record also includes structural context.
F30C (p.Phe30Cys) variant details
- p.Phe30Cys
- gnomAD rs932824943
- Uncertain significance
- Plasma factor XI deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.87
- MetaLR 0.87
- MetaSVM 0.88
- CADD 24.60
- ClinVar: Uncertain significance (Plasma factor XI deficiency)
- EBI: Variant of uncertain significance (in FA11D)
- UniProt: Uncertain significance (in FA11D)
- Structural context available