V433L (p.Val433Leu) variant of GBA1 (P04062)
V433L (p.Val433Leu) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Lewy body dementia; Gaucher disease type I; Gaucher disease type II. 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.
V433L (p.Val433Leu) variant details
- p.Val433Leu
- rs80356769
- ClinGen CA253059
- ClinVar RCV000004520
- ClinVar RCV000004521
- Pathogenic/Likely pathogenic
- Lewy body dementia; Gaucher disease type I; Gaucher disease type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.85
- CADD 24.50
- PolyPhen-2 0.49
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Lewy body dementia; Gaucher disease type I; Gaucher disease type)
- EBI: Pathogenic (in GD1 and GD3)
- UniProt: Pathogenic (in GD1 and GD3)
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. (PMID 10796875)
- Cited in: Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. (PMID 16293621)