H53Y (p.His53Tyr) variant of F11 (Coagulation factor XI)
H53Y (p.His53Tyr) 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 Hereditary factor XI deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
H53Y (p.His53Tyr) variant details
- p.His53Tyr
- ExAC rs55956266
- gnomAD rs55956266
- Likely pathogenic
- Hereditary factor XI deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.54
- ESM-1b 1.00
- AlphaMissense 0.26
- MetaLR 0.82
- MetaSVM 0.89
- CADD 23.80
- ClinVar: Likely pathogenic (Hereditary factor XI deficiency disease)
- EBI: Likely pathogenic (in FA11D)
- UniProt: Likely pathogenic (in FA11D)
- Population evidence available
- Structural context available