N5I (p.Asn5Ile) variant of F9 (Coagulation factor IX)
N5I (p.Asn5Ile) in F9 (Coagulation factor IX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
N5I (p.Asn5Ile) variant details
- p.Asn5Ile
- gnomAD X-139530778-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.15
- MetaLR 0.57
- MetaSVM -0.34
- CADD 10.50
- PolyPhen-2 0.01
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available