S175N (p.Ser175Asn) variant of F12 (Coagulation factor XII)
S175N (p.Ser175Asn) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S175N (p.Ser175Asn) variant details
- p.Ser175Asn
- TOPMed rs1450462516
- gnomAD rs1450462516
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.35
- CADD 15.50
- PolyPhen-2 0.27
- SIFT 0.33
- Population evidence available
- Structural context available