C146* (p.Cys146Ter) variant of F11 (Coagulation factor XI)
C146* (p.Cys146Ter) in F11 (Coagulation factor XI) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
C146* (p.Cys146Ter) variant details
- p.Cys146Ter
- rs121965066
- ClinGen CA121752
- ClinVar RCV000012671
- ClinVar RCV001228574
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.825
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Severe factor XI deficiency caused by compound heterozygosity. (PMID 15180874)
- Cited in: Identification of two novel mutations in non-Jewish factor XI deficiency. (PMID 7669672)