Y151C (p.Tyr151Cys) variant of F11 (Coagulation factor XI)
Y151C (p.Tyr151Cys) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
Y151C (p.Tyr151Cys) variant details
- p.Tyr151Cys
- rs281875273
- ClinGen CA219142
- ClinVar RCV000059026
- ClinVar RCV003323384
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.45
- MetaLR 0.87
- MetaSVM 0.70
- CADD 19.78
- ClinVar: Uncertain significance (not specified)
- 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)