H271Q (p.His271Gln) variant of PINK1 (Q9BXM7)
H271Q (p.His271Gln) 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 0.76 / 1. The record also includes published literature and structural context.
H271Q (p.His271Gln) variant details
- p.His271Gln
- rs28940284
- ClinGen CA252267
- ClinVar RCV000002506
- UniProt VAR 046585
- Pathogenic
- Autosomal recessive early-onset Parkinson disease 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- AlphaMissense 0.96
- MetaLR 0.68
- MetaSVM 0.57
- 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: Novel PINK1 mutations in early-onset parkinsonism. (PMID 15349870)
- Cited in: TIM23 facilitates PINK1 activation by safeguarding against OMA1-mediated degradation in damaged mitochondria. (PMID 37160114)