F252I (p.Phe252Ile) variant of GBA1 (P04062)
F252I (p.Phe252Ile) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of GBA1-related disorder; Gaucher disease type I; Gaucher disease type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
F252I (p.Phe252Ile) variant details
- p.Phe252Ile
- rs381737
- ClinGen CA221413
- cosmic curated COSV59171
- ClinVar RCV000004540
- Pathogenic/Likely pathogenic
- GBA1-related disorder; Gaucher disease type I; Gaucher disease type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.79
- AlphaMissense 0.90
- MetaLR 0.02
- MetaSVM -1.09
- CADD 21.30
- PolyPhen-2 0.20
- ClinVar: Pathogenic/Likely pathogenic (GBA1-related disorder; Gaucher disease type I; Gaucher disease t)
- EBI: Pathogenic (in GD1, GD2 and GD3)
- UniProt: Pathogenic (in GD1, GD2 and GD3)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Glucocerebrosidase mutations among Chinese neuronopathic and non-neuronopathic Gaucher disease patients. (PMID 10360404)
- Cited in: Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. (PMID 10796875)