Q139* (p.Gln139Ter) variant of F12 (Coagulation factor XII)
Q139* (p.Gln139Ter) in F12 (Coagulation factor XII) 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 0.85 / 1. The record also includes population frequency data and structural context.
Q139* (p.Gln139Ter) variant details
- p.Gln139Ter
- rs2481043070
- ClinGen CA362330645
- NCI-TCGA Cosmic COSV5369
- ClinVar RCV003455830
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.854
- CADD 38.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available