G108S (p.Gly108Ser) variant of PARK7 (Parkinson disease protein 7)
G108S (p.Gly108Ser) in PARK7 (Parkinson disease protein 7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive early-onset Parkinson disease 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
G108S (p.Gly108Ser) variant details
- p.Gly108Ser
- rs1252815484
- ClinGen CA338165506
- ClinVar RCV001814642
- gnomAD rs1252815484
- Pathogenic
- Autosomal recessive early-onset Parkinson disease 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.71
- CADD 35.00
- PolyPhen-2 0.42
- SIFT 0.06
- ClinVar: Pathogenic (Autosomal recessive early-onset Parkinson disease 7)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)
- Cited in: EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. (PMID 23279440)