A168P (p.Ala168Pro) variant of PINK1 (Q9BXM7)
A168P (p.Ala168Pro) in PINK1 (Q9BXM7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive early-onset Parkinson disease 6; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
A168P (p.Ala168Pro) variant details
- p.Ala168Pro
- rs768091663
- ClinGen CA660443
- ClinVar RCV000494163
- ClinVar RCV000509548
- Pathogenic/Likely pathogenic
- Autosomal recessive early-onset Parkinson disease 6; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.75
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive early-onset Parkinson disease 6; not provide)
- EBI: Pathogenic (in PARK6)
- UniProt: Pathogenic (in PARK6)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: PINK1 mutations are associated with sporadic early-onset parkinsonism. (PMID 15349860)
- Cited in: Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. (PMID 16009891)