C46F (p.Cys46Phe) variant of F11 (Coagulation factor XI)
C46F (p.Cys46Phe) in F11 (Coagulation factor XI) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
C46F (p.Cys46Phe) variant details
- p.Cys46Phe
- rs281875271
- ClinGen CA219108
- ClinVar RCV000059008
- UniProt VAR 054894
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 1.00
- MetaSVM 0.96
- CADD 27.20
- ClinVar: not provided (not provided)
- EBI: Pathogenic (in FA11D)
- UniProt: Pathogenic (in FA11D)
- Population evidence available
- Structural context available
- Cited in: Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define… (PMID 15953011)
- Cited in: Identification of a novel mutation in a non-Jewish factor XI deficient kindred. (PMID 10027710)