C416Y (p.Cys416Tyr) variant of F11 (Coagulation factor XI)
C416Y (p.Cys416Tyr) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Plasma factor XI deficiency; Hereditary factor XI deficiency disea. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
C416Y (p.Cys416Tyr) variant details
- p.Cys416Tyr
- rs779802284
- ClinGen CA3163932
- ClinVar RCV000411689
- ClinVar RCV002523881
- Pathogenic/Likely pathogenic
- not provided; Plasma factor XI deficiency; Hereditary factor XI deficiency disea
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- AlphaMissense 0.97
- MetaLR 0.98
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.58
- ClinVar: Pathogenic/Likely pathogenic (not provided; Plasma factor XI deficiency; Hereditary factor XI)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available