G30R (p.Gly30Arg) variant of PINK1 (Q9BXM7)
G30R (p.Gly30Arg) in PINK1 (Q9BXM7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
G30R (p.Gly30Arg) variant details
- p.Gly30Arg
- rs569753606
- ClinGen CA10608797
- ClinVar RCV000983814
- ClinVar RCV003409446
- Conflicting interpretations
- Autosomal recessive early-onset Parkinson disease 6; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.16
- CADD 20.10
- PolyPhen-2 0.33
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Autosomal recessive early-onset Parkinson disease 6; not provide)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:LWK population (allele frequency 0.035)
- Structural context available
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)
- Cited in: PINK1 Type of Young-Onset Parkinson Disease. (PMID 20301792)