R3H (p.Arg3His) variant of F9 (Coagulation factor IX)
R3H (p.Arg3His) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R3H (p.Arg3His) variant details
- p.Arg3His
- rs148060786
- ClinGen CA10529706
- ClinVar RCV000861920
- ClinVar RCV001081775
- Benign
- Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.53
- MetaLR 0.40
- MetaSVM -0.68
- CADD 6.04
- PolyPhen-2 0.00
- SIFT 0.56
- ClinVar: Benign (Hereditary factor IX deficiency disease)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:LWK population (allele frequency 0.015)
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)