C374R (p.Cys374Arg) variant of F11 (Coagulation factor XI)
C374R (p.Cys374Arg) 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 0.81 / 1. The record also includes population frequency data and structural context.
C374R (p.Cys374Arg) variant details
- p.Cys374Arg
- rs1580090765
- ClinGen CA358939037
- ClinVar RCV000851663
- Ensembl rs1580090765
- Likely pathogenic
- Hereditary factor XI deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- AlphaMissense 0.93
- MetaLR 0.83
- MetaSVM 0.75
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.63
- ClinVar: Likely pathogenic (Hereditary factor XI deficiency disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available