E16G (p.Glu16Gly) variant of PARK7 (Parkinson disease protein 7)
E16G (p.Glu16Gly) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
E16G (p.Glu16Gly) variant details
- p.Glu16Gly
- gnomAD rs1372795965
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.85
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available