G44W (p.Gly44Trp) variant of F12 (Coagulation factor XII)
G44W (p.Gly44Trp) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
G44W (p.Gly44Trp) variant details
- p.Gly44Trp
- ExAC rs765592197
- gnomAD rs765592197
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.71
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:ADYGEI population (allele frequency 0.029)
- Structural context available