G30S (p.Gly30Ser) variant of PINK1 (Q9BXM7)
G30S (p.Gly30Ser) in PINK1 (Q9BXM7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Autosomal recessive early-onset Parkinson disease 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
G30S (p.Gly30Ser) variant details
- p.Gly30Ser
- rs569753606
- ClinGen CA338853489
- ClinVar RCV003499312
- 1000Genomes rs569753606
- Likely benign
- Autosomal recessive early-onset Parkinson disease 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.03
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Likely benign (Autosomal recessive early-onset Parkinson disease 6)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)
- Cited in: PINK1 Type of Young-Onset Parkinson Disease. (PMID 20301792)