P46S (p.Pro46Ser) variant of F12 (Coagulation factor XII)
P46S (p.Pro46Ser) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
P46S (p.Pro46Ser) variant details
- p.Pro46Ser
- gnomAD rs1294834578
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.36
- CADD 23.60
- PolyPhen-2 0.78
- SIFT 0.23
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available