G430D (p.Gly430Asp) variant of PRKN (O60260)
G430D (p.Gly430Asp) in PRKN (O60260) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Young-onset Parkinson disease; Lung cancer; Autosomal recessive juvenile Parkins. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G430D (p.Gly430Asp) variant details
- p.Gly430Asp
- rs191486604
- ClinGen CA4089945
- cosmic curated COSV10591
- ClinVar RCV000269607
- Pathogenic/Likely pathogenic
- Young-onset Parkinson disease; Lung cancer; Autosomal recessive juvenile Parkins
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- REVEL 0.96
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Young-onset Parkinson disease; Lung cancer; Autosomal recessive)
- EBI: Pathogenic (in PARK2)
- UniProt: Pathogenic (in PARK2)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Parkin (PRKN) cellular abundance: score 1.08
- Cited in: Association between early-onset Parkinson's disease and mutations in the parkin gene. (PMID 10824074)
- Cited in: Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas… (PMID 11179010)