G122E (p.Gly122Glu) variant of F9 (Coagulation factor IX)
G122E (p.Gly122Glu) 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 0.82 / 1. The record also includes population frequency data and structural context.
G122E (p.Gly122Glu) variant details
- p.Gly122Glu
- gnomAD rs1927592770
- Likely pathogenic
- Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.94
- AlphaMissense 0.23
- MetaLR 0.97
- MetaSVM 1.10
- CADD 26.50
- PolyPhen-2 1.00
- 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