V30L (p.Val30Leu) variant of F9 (Coagulation factor IX)
V30L (p.Val30Leu) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary factor IX deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
V30L (p.Val30Leu) variant details
- p.Val30Leu
- rs1603263395
- ClinGen CA414434503
- ClinVar RCV000852238
- Ensembl rs1603263395
- Likely pathogenic
- Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- AlphaMissense 0.12
- MetaLR 0.88
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.88
- ClinVar: Likely pathogenic (Hereditary factor IX deficiency disease)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Structural context available
- Cited in: Hemophilia A. (PMID 20301578)
- Cited in: Clinical utility gene card for: haemophilia A. (PMID 21654722)