C20* (p.Cys20Ter) variant of F11 (Coagulation factor XI)
C20* (p.Cys20Ter) in F11 (Coagulation factor XI) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
C20* (p.Cys20Ter) variant details
- p.Cys20Ter
- rs1739959023
- ClinGen CA358957799
- ClinVar RCV002310269
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.833
- AlphaMissense 0.72
- MetaLR 0.92
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available