S70T (p.Ser70Thr) variant of F9 (Coagulation factor IX)
S70T (p.Ser70Thr) in F9 (Coagulation factor IX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
S70T (p.Ser70Thr) variant details
- p.Ser70Thr
- ExAC rs751200298
- gnomAD rs751200298
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.37
- MetaLR 0.92
- MetaSVM 0.76
- CADD 2.33
- PolyPhen-2 0.02
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available