A74V (p.Ala74Val) variant of F12 (Coagulation factor XII)
A74V (p.Ala74Val) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
A74V (p.Ala74Val) variant details
- p.Ala74Val
- ExAC rs749593480
- gnomAD rs749593480
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.52
- CADD 28.60
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available