L483P (p.Leu483Pro) variant of GBA1 (P04062)
L483P (p.Leu483Pro) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Parkinson disease, late-onset. 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.
L483P (p.Leu483Pro) variant details
- p.Leu483Pro
- rs421016
- ClinGen CA116765
- ClinVar RCV000004509
- ClinVar RCV000004510
- Pathogenic
- not provided; Parkinson disease, late-onset
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.86
- CADD 24.70
- PolyPhen-2 0.82
- SIFT 0.02
- ClinVar: Pathogenic (not provided; Parkinson disease, late-onset)
- EBI: Pathogenic (in GD1, GD2 and GD3)
- UniProt: Pathogenic (in GD1, GD2 and GD3)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Glucocerebrosidase mutations among Chinese neuronopathic and non-neuronopathic Gaucher disease patients. (PMID 10360404)
- Cited in: Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C]] in… (PMID 10447266)