K237E (p.Lys237Glu) variant of GBA1 (P04062)
K237E (p.Lys237Glu) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Gaucher disease. 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.
K237E (p.Lys237Glu) variant details
- p.Lys237Glu
- rs773409311
- ClinGen CA1141699
- ClinVar RCV000781408
- ClinVar RCV003144585
- Pathogenic/Likely pathogenic
- not provided; Gaucher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.84
- CADD 25.90
- PolyPhen-2 0.75
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (not provided; Gaucher disease)
- EBI: Pathogenic (in GD2)
- UniProt: Pathogenic (in GD2)
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Cited in: The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease. (PMID 11933202)
- Cited in: Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. (PMID 16293621)