G430S (p.Gly430Ser) variant of PRKN (O60260)
G430S (p.Gly430Ser) in PRKN (O60260) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Young-onset Parkinson disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G430S (p.Gly430Ser) variant details
- p.Gly430Ser
- rs1226997153
- ClinGen CA366456371
- ClinVar RCV001449640
- ClinVar RCV001865914
- Conflicting interpretations
- Young-onset Parkinson disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.94
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Young-onset Parkinson disease; not provided)
- EBI: Likely pathogenic (in PARK2)
- UniProt: Likely pathogenic (in PARK2)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 1.08