R3S (p.Arg3Ser) variant of F9 (Coagulation factor IX)
R3S (p.Arg3Ser) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R3S (p.Arg3Ser) variant details
- p.Arg3Ser
- rs766259893
- ClinGen CA10529704
- ClinVar RCV003781836
- 1000Genomes rs766259893
- Likely benign
- Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.12
- MetaLR 0.41
- MetaSVM -0.68
- CADD 0.92
- PolyPhen-2 0.03
- SIFT 0.41
- ClinVar: Likely benign (Thrombophilia, X-linked, due to factor 9 defect; Hereditary fact)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)