D419A (p.Asp419Ala) variant of GBA1 (P04062)
D419A (p.Asp419Ala) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Gaucher disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
D419A (p.Asp419Ala) variant details
- p.Asp419Ala
- rs77284004
- UniProt VAR 003305
- Ensembl rs77284004
- Likely pathogenic
- Gaucher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.97
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Gaucher disease)
- EBI: Likely pathogenic (found in a patient with Parkinson disease)
- UniProt: Likely pathogenic (found in a patient with Parkinson disease)
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. (PMID 19286695)