L23I (p.Leu23Ile) variant of F9 (Coagulation factor IX)
L23I (p.Leu23Ile) in F9 (Coagulation factor IX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
L23I (p.Leu23Ile) variant details
- p.Leu23Ile
- gnomAD rs1194004315
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.40
- MetaLR 0.70
- MetaSVM 0.23
- CADD 20.20
- PolyPhen-2 0.06
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available