G30W (p.Gly30Trp) variant of PARK7 (Parkinson disease protein 7)
G30W (p.Gly30Trp) in PARK7 (Parkinson disease protein 7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
G30W (p.Gly30Trp) variant details
- p.Gly30Trp
- gnomAD 1-7962870-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.823
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available