L41R (p.Leu41Arg) variant of F9 (Coagulation factor IX)
L41R (p.Leu41Arg) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
L41R (p.Leu41Arg) variant details
- p.Leu41Arg
- rs371373268
- ClinGen CA10529739
- ClinVar RCV001035253
- ClinVar RCV001827212
- Uncertain significance
- Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.94
- MetaLR 0.94
- MetaSVM 1.08
- CADD 26.10
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary factor IX deficiency disease; Thrombophilia, X-linked)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00011)
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)