S19P (p.Ser19Pro) variant of F12 (Coagulation factor XII)
S19P (p.Ser19Pro) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
S19P (p.Ser19Pro) variant details
- p.Ser19Pro
- TOPMed rs779289444
- gnomAD rs779289444
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.19
- CADD 8.95
- PolyPhen-2 0.01
- SIFT 0.31
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available