E18E (p.Glu18Glu) variant of PARK7 (Parkinson disease protein 7)
E18E (p.Glu18Glu) in PARK7 (Parkinson disease protein 7) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E18E (p.Glu18Glu) variant details
- p.Glu18Glu
- rs752342660
- gnomAD 1-7962839-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.374
- CADD 13.40
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available