C18S (p.Cys18Ser) variant of F9 (Coagulation factor IX)
C18S (p.Cys18Ser) 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.
C18S (p.Cys18Ser) variant details
- p.Cys18Ser
- gnomAD rs944920007
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.28
- MetaLR 0.56
- MetaSVM -0.43
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.25
- Most common in the South Asian population (allele frequency 5.5e-05)
- Structural context available