A337P (p.Ala337Pro) variant of F9 (Coagulation factor IX)
A337P (p.Ala337Pro) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary factor IX deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
A337P (p.Ala337Pro) variant details
- p.Ala337Pro
- rs137852253
- ClinGen CA255378
- ClinVar RCV000011352
- Ensembl rs137852253
- Likely pathogenic
- Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- AlphaMissense 0.23
- MetaLR 0.83
- MetaSVM 0.86
- PolyPhen-2 0.98
- SIFT 0.07
- EVE 0.33
- ClinVar: Likely pathogenic (Hereditary factor IX deficiency disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Haemophilia B caused by mutation of a potential thrombin cleavage site in factor IX. (PMID 2320433)
- Cited in: Hemophilia B. (PMID 20301668)