N38D (p.Asn38Asp) variant of F9 (Coagulation factor IX)
N38D (p.Asn38Asp) in F9 (Coagulation factor IX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
N38D (p.Asn38Asp) variant details
- p.Asn38Asp
- gnomAD X-139537033-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.26
- MetaLR 0.53
- MetaSVM -0.43
- CADD 12.40
- PolyPhen-2 0.02
- SIFT 0.38
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available