E64G (p.Glu64Gly) variant of PARK7 (Parkinson disease protein 7)
E64G (p.Glu64Gly) 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, published literature, and structural context.
E64G (p.Glu64Gly) variant details
- p.Glu64Gly
- gnomAD 1-7965424-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.33
- MetaLR 0.33
- MetaSVM -0.62
- CADD 29.60
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available