L38* (p.Leu38Ter) variant of PARK7 (Parkinson disease protein 7)
L38* (p.Leu38Ter) 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.
L38* (p.Leu38Ter) variant details
- p.Leu38Ter
- gnomAD 1-7965343-G-GGTGA
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.824
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available