E35K (p.Glu35Lys) variant of F12 (Coagulation factor XII)
E35K (p.Glu35Lys) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
E35K (p.Glu35Lys) variant details
- p.Glu35Lys
- TOPMed rs946204940
- gnomAD rs946204940
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.17
- CADD 14.80
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 0.00019)
- Structural context available