C64R (p.Cys64Arg) variant of F9 (Coagulation factor IX)
C64R (p.Cys64Arg) 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 not specified; Hereditary factor IX deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
C64R (p.Cys64Arg) variant details
- p.Cys64Arg
- rs137852224
- ClinGen CA336130710
- ClinVar RCV001001440
- ClinVar RCV004587010
- Likely pathogenic
- not specified; Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.97
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.96
- ClinVar: Likely pathogenic (not specified; Hereditary factor IX deficiency disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)