G50A (p.Gly50Ala) variant of F9 (Coagulation factor IX)
G50A (p.Gly50Ala) 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; Thrombophilia, X-linked, due to factor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
G50A (p.Gly50Ala) variant details
- p.Gly50Ala
- rs1229048705
- ClinGen CA414435680
- ClinVar RCV002032039
- TOPMed rs1229048705
- Likely pathogenic
- Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.75
- MetaLR 0.99
- MetaSVM 1.05
- CADD 23.10
- PolyPhen-2 0.28
- SIFT 0.10
- ClinVar: Likely pathogenic (Hereditary factor IX deficiency disease; Thrombophilia, X-linked)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)