E35G (p.Glu35Gly) variant of F12 (Coagulation factor XII)
E35G (p.Glu35Gly) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E35G (p.Glu35Gly) variant details
- p.Glu35Gly
- TOPMed rs1241419553
- gnomAD rs1241419553
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.16
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available