D354H (p.Asp354His) variant of GBA1 (P04062)
D354H (p.Asp354His) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Gaucher disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
D354H (p.Asp354His) variant details
- p.Asp354His
- rs398123526
- ClinGen CA221379
- ClinVar RCV000180536
- ClinVar RCV000781410
- Conflicting interpretations
- not specified; not provided; Gaucher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.97
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Gaucher disease)
- EBI: Variant of uncertain significance (in GD1)
- UniProt: Uncertain significance (in GD1)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Three unrelated Gaucher's disease patients with three novel point mutations in the glucocerebrosidase gene (P266R… (PMID 8547070)
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)