D222Y (p.Asp222Tyr) variant of F11 (Coagulation factor XI)
D222Y (p.Asp222Tyr) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Plasma factor XI deficiency; Hereditary factor XI deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
D222Y (p.Asp222Tyr) variant details
- p.Asp222Tyr
- rs281875245
- ClinGen CA219144
- ClinVar RCV000059027
- ClinVar RCV000852186
- Likely pathogenic
- Plasma factor XI deficiency; Hereditary factor XI deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- AlphaMissense 0.18
- MetaLR 0.77
- MetaSVM 0.64
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.52
- ClinVar: Likely pathogenic (Plasma factor XI deficiency; Hereditary factor XI deficiency dis)
- EBI: Pathogenic (in FA11D)
- UniProt: Pathogenic (in FA11D)
- Structural context available
- Cited in: Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion… (PMID 22159456)
- Cited in: Identification of a novel mutation in a non-Jewish factor XI deficient kindred. (PMID 10027710)