E154G (p.Glu154Gly) variant of F12 (Coagulation factor XII)
E154G (p.Glu154Gly) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
E154G (p.Glu154Gly) variant details
- p.Glu154Gly
- TOPMed rs1763257939
- Missense
- Variant Prioritization Score for Impact Estimate 0.0927
- REVEL 0.06
- CADD 9.02
- PolyPhen-2 0.02
- SIFT 0.47
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available