F255Y (p.Phe255Tyr) variant of GBA1 (P04062)
F255Y (p.Phe255Tyr) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
F255Y (p.Phe255Tyr) variant details
- p.Phe255Tyr
- rs74500255
- ClinGen CA253065
- ClinVar RCV000004537
- ClinVar RCV000498055
- Pathogenic/Likely pathogenic
- Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher d
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.86
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Gaucher disease-ophthalmoplegia-cardiovascular calcification syn)
- EBI: Pathogenic (in GD)
- UniProt: Pathogenic (in GD)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Mutations in Jewish patients with Gaucher disease. (PMID 1558964)
- Cited in: Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution. (PMID 1974409)