S19A (p.Ser19Ala) variant of F12 (Coagulation factor XII)
S19A (p.Ser19Ala) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
S19A (p.Ser19Ala) variant details
- p.Ser19Ala
- TOPMed rs779289444
- gnomAD rs779289444
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.14
- CADD 3.56
- PolyPhen-2 0.00
- SIFT 0.85
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available