C135S (p.Cys135Ser) variant of F12 (Coagulation factor XII)
C135S (p.Cys135Ser) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
C135S (p.Cys135Ser) variant details
- p.Cys135Ser
- ExAC rs751665367
- TOPMed rs751665367
- gnomAD rs751665367
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.82
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available