G74A (p.Gly74Ala) variant of GBA1 (P04062)
G74A (p.Gly74Ala) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Parkinson disease, late-onset. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
G74A (p.Gly74Ala) variant details
- p.Gly74Ala
- rs371592589
- ClinGen CA16044123
- ClinVar RCV000416569
- TOPMed rs371592589
- Uncertain significance
- Parkinson disease, late-onset
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- REVEL 0.76
- CADD 24.40
- PolyPhen-2 0.63
- SIFT 0.02
- ClinVar: Uncertain significance (Parkinson disease, late-onset)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)
- Cited in: Gaucher Disease. (PMID 20301446)