A217D (p.Ala217Asp) variant of PINK1 (Q9BXM7)
A217D (p.Ala217Asp) 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 0.80 / 1. The record also includes published literature and structural context.
A217D (p.Ala217Asp) variant details
- p.Ala217Asp
- rs74315360
- ClinGen CA252277
- ClinVar RCV000002515
- UniProt VAR 046578
- Pathogenic
- Autosomal recessive early-onset Parkinson disease 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- AlphaMissense 0.98
- MetaLR 0.75
- MetaSVM 0.66
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Pathogenic (Autosomal recessive early-onset Parkinson disease 6)
- EBI: Pathogenic (in PARK6)
- UniProt: Pathogenic (in PARK6)
- Structural context available
- Cited in: Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1. (PMID 16966503)
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)