F450I (p.Phe450Ile) variant of GBA1 (P04062)
F450I (p.Phe450Ile) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Gaucher disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
F450I (p.Phe450Ile) variant details
- p.Phe450Ile
- rs1553216985
- ClinGen CA342712792
- ClinVar RCV000592466
- ClinVar RCV005240289
- Pathogenic
- Gaucher disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- AlphaMissense 0.71
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.51
- ClinVar: Pathogenic (Gaucher disease; not provided)
- EBI: Pathogenic (in GD1)
- UniProt: Pathogenic (in GD1)
- Structural context available
- Cited in: Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation. (PMID 9856561)
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)