V30D (p.Val30Asp) variant of F9 (Coagulation factor IX)
V30D (p.Val30Asp) in F9 (Coagulation factor IX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
V30D (p.Val30Asp) variant details
- p.Val30Asp
- gnomAD rs1191327804
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.92
- MetaLR 0.91
- MetaSVM 1.02
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- Structural context available