R191C (p.Arg191Cys) variant of F9 (Coagulation factor IX)
R191C (p.Arg191Cys) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R191C (p.Arg191Cys) variant details
- p.Arg191Cys
- rs137852237
- ClinGen CA255340
- ClinVar RCV000011330
- ClinVar RCV001390295
- Pathogenic/Likely pathogenic
- Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- AlphaMissense 0.46
- MetaLR 0.87
- MetaSVM 0.83
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.23
- ClinVar: Pathogenic/Likely pathogenic (Hereditary factor IX deficiency disease; Thrombophilia, X-linked)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Population evidence available
- Structural context available
- Cited in: Factor IX Cardiff: a variant factor IX protein that shows abnormal activation is caused by an arginine to cysteine… (PMID 2775660)
- Cited in: Identification of twenty-one new mutations in the factor IX gene by SSCP analysis. (PMID 10094553)