G432S (p.Gly432Ser) variant of F9 (Coagulation factor IX)
G432S (p.Gly432Ser) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G432S (p.Gly432Ser) variant details
- p.Gly432Ser
- rs1170838100
- ClinGen CA414447151
- ClinVar RCV003783796
- UniProt VAR 006612
- Pathogenic
- Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- AlphaMissense 0.77
- MetaLR 0.93
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.53
- ClinVar: Pathogenic (Thrombophilia, X-linked, due to factor 9 defect; Hereditary fact)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Population evidence available
- Structural context available
- Cited in: Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994. (PMID 7937052)
- Cited in: Identification of twenty-one new mutations in the factor IX gene by SSCP analysis. (PMID 10094553)