D438H (p.Asp438His) variant of GBA1 (P04062)
D438H (p.Asp438His) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Parkinson disease, late-onset. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
D438H (p.Asp438His) variant details
- p.Asp438His
- rs1553217009
- ClinGen CA342713226
- ClinVar RCV001771807
- TOPMed rs1553217009
- Likely pathogenic
- Parkinson disease, late-onset
- Missense
- Variant Prioritization Score for Impact Estimate 0.943
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Likely pathogenic (Parkinson disease, late-onset)
- EBI: Pathogenic (in GD1)
- UniProt: Pathogenic (in GD1)
- Structural context available
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)
- Cited in: Gaucher Disease. (PMID 20301446)