F298L (p.Phe298Leu) variant of GBA1 (P04062)
F298L (p.Phe298Leu) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Gaucher disease; Gaucher disease type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
F298L (p.Phe298Leu) variant details
- p.Phe298Leu
- rs1671825414
- ClinGen CA342719512
- cosmic curated COSV99046
- ClinVar RCV001199909
- Likely pathogenic
- not provided; Gaucher disease; Gaucher disease type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.83
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Gaucher disease)
- EBI: Pathogenic (in GD and GD2)
- UniProt: Pathogenic (in GD and GD2)
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. (PMID 10649495)
- Cited in: Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. (PMID 16293621)