D80G (p.Asp80Gly) variant of F12 (Coagulation factor XII)
D80G (p.Asp80Gly) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
D80G (p.Asp80Gly) variant details
- p.Asp80Gly
- ExAC rs754983141
- gnomAD rs754983141
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.27
- CADD 24.60
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available