E148V (p.Glu148Val) variant of F12 (Coagulation factor XII)
E148V (p.Glu148Val) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
E148V (p.Glu148Val) variant details
- p.Glu148Val
- TOPMed rs1377588826
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.32
- CADD 21.90
- PolyPhen-2 0.95
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available