G26R (p.Gly26Arg) variant of PINK1 (Q9BXM7)
G26R (p.Gly26Arg) in PINK1 (Q9BXM7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive early-onset Parkinson disease 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G26R (p.Gly26Arg) variant details
- p.Gly26Arg
- rs2053015141
- ClinGen CA338853465
- ClinVar RCV001315604
- Ensembl rs2053015141
- Uncertain significance
- Autosomal recessive early-onset Parkinson disease 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.37
- CADD 23.70
- PolyPhen-2 0.77
- SIFT 0.01
- ClinVar: Uncertain significance (Autosomal recessive early-onset Parkinson disease 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)
- Cited in: PINK1 Type of Young-Onset Parkinson Disease. (PMID 20301792)