G44V (p.Gly44Val) variant of F12 (Coagulation factor XII)
G44V (p.Gly44Val) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
G44V (p.Gly44Val) variant details
- p.Gly44Val
- gnomAD rs1364803384
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- REVEL 0.75
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available