R3C (p.Arg3Cys) variant of F9 (Coagulation factor IX)
R3C (p.Arg3Cys) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Hereditary factor IX deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R3C (p.Arg3Cys) variant details
- p.Arg3Cys
- rs766259893
- ClinGen CA10529705
- NCI-TCGA Cosmic COSV9949
- cosmic curated COSV99496
- Benign
- Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.16
- MetaLR 0.49
- MetaSVM -0.58
- CADD 6.26
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Benign (Hereditary factor IX deficiency disease)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:KHV population (allele frequency 0.0065)
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)