E64E (p.Glu64Glu) variant of PARK7 (Parkinson disease protein 7)
E64E (p.Glu64Glu) in PARK7 (Parkinson disease protein 7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
E64E (p.Glu64Glu) variant details
- p.Glu64Glu
- gnomAD 1-7965425-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.769
- CADD 26.70
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available