C545Y (p.Cys545Tyr) variant of F11 (Coagulation factor XI)
C545Y (p.Cys545Tyr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
C545Y (p.Cys545Tyr) variant details
- p.Cys545Tyr
- rs1267979731
- ClinGen CA358945569
- ClinVar RCV003333831
- gnomAD rs1267979731
- Likely pathogenic
- Plasma factor XI deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- AlphaMissense 0.94
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Likely pathogenic (Plasma factor XI deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available