L483R (p.Leu483Arg) variant of GBA1 (P04062)
L483R (p.Leu483Arg) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of GBA-related disorder; Gaucher disease type III; Gaucher disease type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
L483R (p.Leu483Arg) variant details
- p.Leu483Arg
- rs421016
- ClinGen CA16040607
- ClinVar RCV000414719
- ClinVar RCV000663363
- Pathogenic/Likely pathogenic
- GBA-related disorder; Gaucher disease type III; Gaucher disease type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.89
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (GBA-related disorder; Gaucher disease type III; Gaucher disease)
- EBI: Pathogenic (in GD1 and GD2)
- UniProt: Pathogenic (in GD1 and GD2)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Use of a multiplex ligation-dependent probe amplification method for the detection of deletions/duplications in the… (PMID 27825739)
- Cited in: New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P. (PMID 7981693)