E388K (p.Glu388Lys) variant of GBA1 (P04062)
E388K (p.Glu388Lys) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Gaucher disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
E388K (p.Glu388Lys) variant details
- p.Glu388Lys
- rs1161552095
- ClinGen CA342715231
- ClinVar RCV003145796
- ClinVar RCV004750868
- Likely pathogenic
- Gaucher disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.71
- CADD 23.00
- PolyPhen-2 0.42
- SIFT 0.10
- ClinVar: Likely pathogenic (Gaucher disease; not provided)
- EBI: Pathogenic (in GD)
- UniProt: Pathogenic (in GD)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. (PMID 16293621)
- Cited in: Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? (PMID 10352942)