R75Q (p.Arg75Gln) variant of F9 (Coagulation factor IX)
R75Q (p.Arg75Gln) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary factor IX deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R75Q (p.Arg75Gln) variant details
- p.Arg75Gln
- rs137852228
- ClinGen CA255318
- ClinVar RCV000011319
- ClinVar RCV000757260
- Pathogenic
- Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.90
- MetaLR 0.98
- MetaSVM 1.09
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Hereditary factor IX deficiency disease)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the… (PMID 2773937)
- Cited in: Identification of twenty-one new mutations in the factor IX gene by SSCP analysis. (PMID 10094553)