F120L (p.Phe120Leu) variant of GBA1 (P04062)
F120L (p.Phe120Leu) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Gaucher disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
F120L (p.Phe120Leu) variant details
- p.Phe120Leu
- UniProt VAR 088437
- Likely pathogenic
- Gaucher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.94
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Gaucher disease)
- EBI: Pathogenic (in GD1)
- UniProt: Pathogenic (in GD1)
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece. (PMID 32547927)
- Cited in: A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. 131. Online. (PMID 10206680)