E90D (p.Glu90Asp) variant of F12 (Coagulation factor XII)
E90D (p.Glu90Asp) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E90D (p.Glu90Asp) variant details
- p.Glu90Asp
- gnomAD rs1323224629
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.36
- CADD 23.00
- PolyPhen-2 0.72
- SIFT 0.07
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available