Q126P (p.Gln126Pro) variant of PINK1 (Q9BXM7)
Q126P (p.Gln126Pro) in PINK1 (Q9BXM7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive early-onset Parkinson disease 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
Q126P (p.Gln126Pro) variant details
- p.Gln126Pro
- rs775809722
- ClinGen CA338854488
- ClinVar RCV002630051
- UniProt VAR 064344
- Likely pathogenic
- Autosomal recessive early-onset Parkinson disease 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.35
- CADD 14.40
- PolyPhen-2 0.13
- SIFT 0.24
- ClinVar: Likely pathogenic (Autosomal recessive early-onset Parkinson disease 6)
- EBI: Pathogenic (in PARK6)
- UniProt: Pathogenic (in PARK6)
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation. (PMID 18286320)
- Cited in: The PINK1/Parkin-mediated mitophagy is compromised by PD-associated mutations. (PMID 20798600)