S11P (p.Ser11Pro) variant of F9 (Coagulation factor IX)
S11P (p.Ser11Pro) in F9 (Coagulation factor IX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S11P (p.Ser11Pro) variant details
- p.Ser11Pro
- gnomAD X-139530795-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.35
- MetaLR 0.55
- MetaSVM -0.59
- CADD 8.04
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available