L19I (p.Leu19Ile) variant of F9 (Coagulation factor IX)
L19I (p.Leu19Ile) in F9 (Coagulation factor IX) 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.
L19I (p.Leu19Ile) variant details
- p.Leu19Ile
- Ensembl rs1927327744
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.36
- MetaLR 0.70
- MetaSVM 0.16
- CADD 22.00
- PolyPhen-2 0.12
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available