A39L (p.Ala39Leu) variant of PARK7 (Parkinson disease protein 7)
A39L (p.Ala39Leu) in PARK7 (Parkinson disease protein 7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
A39L (p.Ala39Leu) variant details
- p.Ala39Leu
- gnomAD 1-7965346-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.647
- CADD 27.80
- Population evidence available
- Structural context available
- Literature evidence available