C140Y (p.Cys140Tyr) variant of F11 (Coagulation factor XI)
C140Y (p.Cys140Tyr) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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.
C140Y (p.Cys140Tyr) variant details
- p.Cys140Tyr
- rs281875256
- ClinGen CA219140
- ClinVar RCV000059025
- UniProt VAR 067935
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- AlphaMissense 0.90
- MetaLR 1.00
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in FA11D)
- UniProt: Pathogenic (in FA11D)
- Population evidence available
- Structural context available
- Cited in: Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency. (PMID 16607084)
- Cited in: Identification of a novel mutation in a non-Jewish factor XI deficient kindred. (PMID 10027710)