T75A (p.Thr75Ala) variant of F12 (Coagulation factor XII)
T75A (p.Thr75Ala) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
T75A (p.Thr75Ala) variant details
- p.Thr75Ala
- ExAC rs778114935
- TOPMed rs778114935
- gnomAD rs778114935
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.48
- CADD 24.90
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available