V30I (p.Val30Ile) variant of F9 (Coagulation factor IX)
V30I (p.Val30Ile) 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.
V30I (p.Val30Ile) variant details
- p.Val30Ile
- rs1603263395
- ClinGen CA414434500
- ClinVar RCV000806960
- ClinVar RCV004577534
- 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: Missense mutations and evolutionary conservation of amino acids: evidence that many of the amino acids in factor IX… (PMID 1680287)
- Cited in: Identification of twenty-one new mutations in the factor IX gene by SSCP analysis. (PMID 10094553)