D419N (p.Asp419Asn) variant of GBA1 (P04062)
D419N (p.Asp419Asn) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Gaucher disease type I; Gaucher disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
D419N (p.Asp419Asn) variant details
- p.Asp419Asn
- rs1671712475
- ClinGen CA342713897
- ClinVar RCV001542262
- ClinVar RCV004752008
- Pathogenic/Likely pathogenic
- Gaucher disease type I; Gaucher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.94
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Gaucher disease type I; Gaucher disease)
- EBI: Pathogenic (in GD1)
- UniProt: Pathogenic (in GD1)
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: Functional analysis of 11 novel GBA alleles. (PMID 24022302)
- Cited in: Glucocerebrosidase mutations in Gaucher disease. (PMID 8790604)