F290L (p.Phe290Leu) variant of GBA1 (P04062)
F290L (p.Phe290Leu) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Gaucher disease perinatal lethal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
F290L (p.Phe290Leu) variant details
- p.Phe290Leu
- rs121908313
- ClinGen CA253114
- ClinVar RCV000004577
- UniProt VAR 032409
- Pathogenic
- Gaucher disease perinatal lethal
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.38
- ClinVar: Pathogenic (Gaucher disease perinatal lethal)
- EBI: Pathogenic (in GDPL)
- UniProt: Pathogenic (in GDPL)
- Structural context available
- Cited in: The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease. (PMID 11933202)
- Cited in: Gaucher's disease: identification of novel mutant alleles and genotype-phenotype relationships. (PMID 12791040)