D448H (p.Asp448His) variant of GBA1 (P04062)
D448H (p.Asp448His) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Gaucher disease type I; Gaucher disease type II; Gaucher disease type III. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
D448H (p.Asp448His) variant details
- p.Asp448His
- rs1064651
- ClinGen CA221392
- cosmic curated COSV59168
- ClinVar RCV000004522
- Pathogenic
- Gaucher disease type I; Gaucher disease type II; Gaucher disease type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.74
- CADD 23.30
- PolyPhen-2 0.09
- SIFT 0.05
- ClinVar: Pathogenic (Gaucher disease type II; Gaucher disease type III)
- EBI: Pathogenic (in GD1, GD2, GD3 and GD3C)
- UniProt: Pathogenic (in GD1, GD2, GD3 and GD3C)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Glucocerebrosidase mutations among Chinese neuronopathic and non-neuronopathic Gaucher disease patients. (PMID 10360404)
- Cited in: Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C]] in… (PMID 10447266)