E18D (p.Glu18Asp) variant of PARK7 (Parkinson disease protein 7)
E18D (p.Glu18Asp) in PARK7 (Parkinson disease protein 7) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
E18D (p.Glu18Asp) variant details
- p.Glu18Asp
- ExAC rs752342660
- TOPMed rs752342660
- gnomAD rs752342660
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.73
- CADD 25.40
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available