D438N (p.Asp438Asn) variant of GBA1 (P04062)
D438N (p.Asp438Asn) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Gaucher disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
D438N (p.Asp438Asn) variant details
- p.Asp438Asn
- rs1553217009
- ClinGen CA342713229
- ClinVar RCV000589122
- ClinVar RCV001212081
- Pathogenic
- Gaucher disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.81
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.01
- CADD 27.50
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Gaucher disease; not provided)
- EBI: Pathogenic (in GD1 and GD2)
- UniProt: Pathogenic (in GD1 and GD2)
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients. (PMID 12204005)
- Cited in: Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease… (PMID 15605411)