A317V (p.Ala317Val) variant of F9 (Coagulation factor IX)
A317V (p.Ala317Val) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary factor IX deficiency disease; Bleeding and platelet disorders. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
A317V (p.Ala317Val) variant details
- p.Ala317Val
- rs2148367725
- ClinGen CA414444912
- ClinVar RCV001814742
- Ensembl rs2148367725
- Pathogenic/Likely pathogenic
- Hereditary factor IX deficiency disease; Bleeding and platelet disorders
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.96
- MetaLR 0.97
- MetaSVM 1.10
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary factor IX deficiency disease; Bleeding and platelet d)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)