D33N (p.Asp33Asn) variant of F9 (Coagulation factor IX)
D33N (p.Asp33Asn) in F9 (Coagulation factor IX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
D33N (p.Asp33Asn) variant details
- p.Asp33Asn
- gnomAD X-139537018-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.18
- MetaLR 0.59
- MetaSVM -0.51
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available