C61F (p.Cys61Phe) variant of F12 (Coagulation factor XII)
C61F (p.Cys61Phe) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
C61F (p.Cys61Phe) variant details
- p.Cys61Phe
- ExAC rs748006160
- TOPMed rs748006160
- gnomAD rs748006160
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.75
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available