G30G (p.Gly30Gly) variant of PARK7 (Parkinson disease protein 7)
G30G (p.Gly30Gly) in PARK7 (Parkinson disease protein 7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
G30G (p.Gly30Gly) variant details
- p.Gly30Gly
- gnomAD 1-7962875-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.756
- CADD 20.00
- Population evidence available
- Structural context available
- Literature evidence available