G13E (p.Gly13Glu) variant of PARK7 (Parkinson disease protein 7)
G13E (p.Gly13Glu) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
G13E (p.Gly13Glu) variant details
- p.Gly13Glu
- gnomAD rs1353830065
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.93
- CADD 30.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available