G309D (p.Gly309Asp) variant of PINK1 (Q9BXM7)
G309D (p.Gly309Asp) in PINK1 (Q9BXM7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive early-onset Parkinson disease 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
G309D (p.Gly309Asp) variant details
- p.Gly309Asp
- rs74315355
- ClinGen CA252266
- ClinVar RCV000002505
- UniProt VAR 018994
- Pathogenic
- Autosomal recessive early-onset Parkinson disease 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- AlphaMissense 0.92
- MetaLR 0.56
- MetaSVM 0.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Pathogenic (Autosomal recessive early-onset Parkinson disease 6)
- EBI: Pathogenic (in PARK6)
- UniProt: Pathogenic (in PARK6)
- Structural context available
- Cited in: Hereditary early-onset Parkinson's disease caused by mutations in PINK1. (PMID 15087508)
- Cited in: Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism. (PMID 16207731)