E64Q (p.Glu64Gln) variant of PARK7 (Parkinson disease protein 7)
E64Q (p.Glu64Gln) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E64Q (p.Glu64Gln) variant details
- p.Glu64Gln
- Ensembl rs1640304434
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.21
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available