G13A (p.Gly13Ala) variant of F9 (Coagulation factor IX)
G13A (p.Gly13Ala) in F9 (Coagulation factor IX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
G13A (p.Gly13Ala) variant details
- p.Gly13Ala
- Ensembl rs1240713875
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.14
- MetaLR 0.48
- MetaSVM -0.63
- CADD 5.89
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available