E133A (p.Glu133Ala) variant of F12 (Coagulation factor XII)
E133A (p.Glu133Ala) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
E133A (p.Glu133Ala) variant details
- p.Glu133Ala
- ExAC rs778016878
- gnomAD rs778016878
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.69
- CADD 28.20
- PolyPhen-2 0.91
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available