E59D (p.Glu59Asp) variant of PARK7 (Parkinson disease protein 7)
E59D (p.Glu59Asp) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
E59D (p.Glu59Asp) variant details
- p.Glu59Asp
- ExAC rs751305698
- TOPMed rs751305698
- gnomAD rs751305698
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.42
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available