R191H (p.Arg191His) variant of F9 (Coagulation factor IX)
R191H (p.Arg191His) 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 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R191H (p.Arg191His) variant details
- p.Arg191His
- rs137852238
- ClinGen CA255342
- cosmic curated COSV10458
- ClinVar RCV000011331
- Pathogenic
- Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.73
- MetaLR 0.88
- MetaSVM 0.99
- CADD 21.20
- PolyPhen-2 0.02
- SIFT 0.02
- ClinVar: Pathogenic (Hereditary factor IX deficiency disease)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Blood clotting factor IX Nagoya 3: the molecular defect of zymogen activation caused by an arginine-145 to histidine… (PMID 2087690)
- 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)