P12L (p.Pro12Leu) variant of F9 (Coagulation factor IX)
P12L (p.Pro12Leu) in F9 (Coagulation factor IX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- ExAC rs745849451
- TOPMed rs745849451
- gnomAD rs745849451
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.21
- MetaLR 0.46
- MetaSVM -0.68
- CADD 6.92
- PolyPhen-2 0.00
- SIFT 0.84
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available