N5K (p.Asn5Lys) variant of F9 (Coagulation factor IX)
N5K (p.Asn5Lys) in F9 (Coagulation factor IX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
N5K (p.Asn5Lys) variant details
- p.Asn5Lys
- gnomAD X-139530779-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.13
- MetaLR 0.50
- MetaSVM -0.57
- CADD 2.40
- PolyPhen-2 0.00
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available