L347P (p.Leu347Pro) variant of PINK1 (Q9BXM7)
L347P (p.Leu347Pro) in PINK1 (Q9BXM7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Autosomal recessive early-onset Parkinson disease 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
L347P (p.Leu347Pro) variant details
- p.Leu347Pro
- rs28940285
- ClinGen CA252272
- ClinVar RCV000002509
- ClinVar RCV002223750
- Pathogenic
- not provided; Autosomal recessive early-onset Parkinson disease 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.82
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Autosomal recessive early-onset Parkinson disease)
- EBI: Pathogenic (in PARK6)
- UniProt: Pathogenic (in PARK6)
- Most common in the East Asian population (allele frequency 0.00058)
- Structural context available
- Cited in: Novel PINK1 mutations in early-onset parkinsonism. (PMID 15349870)
- Cited in: Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. (PMID 15596610)