E133D (p.Glu133Asp) variant of F12 (Coagulation factor XII)
E133D (p.Glu133Asp) in F12 (Coagulation factor XII) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E133D (p.Glu133Asp) variant details
- p.Glu133Asp
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.55
- CADD 22.60
- PolyPhen-2 0.18
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available