N42Y (p.Asn42Tyr) variant of F9 (Coagulation factor IX)
N42Y (p.Asn42Tyr) in F9 (Coagulation factor IX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
N42Y (p.Asn42Tyr) variant details
- p.Asn42Tyr
- gnomAD X-139537045-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.22
- MetaLR 0.60
- MetaSVM -0.36
- CADD 17.70
- PolyPhen-2 0.04
- SIFT 0.76
- Population evidence available
- Structural context available
- Literature evidence available