C130F (p.Cys130Phe) variant of F12 (Coagulation factor XII)
C130F (p.Cys130Phe) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
C130F (p.Cys130Phe) variant details
- p.Cys130Phe
- TOPMed rs1763264684
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.91
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available