K39R (p.Lys39Arg) variant of F9 (Coagulation factor IX)
K39R (p.Lys39Arg) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
K39R (p.Lys39Arg) variant details
- p.Lys39Arg
- rs200505648
- ClinGen CA10529738
- ClinVar RCV001504446
- 1000Genomes rs200505648
- Likely benign
- Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.34
- MetaLR 0.64
- MetaSVM -0.26
- CADD 18.20
- PolyPhen-2 0.03
- SIFT 0.06
- ClinVar: Likely benign (Thrombophilia, X-linked, due to factor 9 defect; Hereditary fact)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CDX population (allele frequency 0.023)
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)