S175T (p.Ser175Thr) variant of F12 (Coagulation factor XII)
S175T (p.Ser175Thr) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S175T (p.Ser175Thr) variant details
- p.Ser175Thr
- TOPMed rs1450462516
- gnomAD rs1450462516
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.41
- CADD 13.90
- PolyPhen-2 0.01
- SIFT 0.55
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available