p.Ala39 Gly40del variant of PARK7 (Parkinson disease protein 7)
p.Ala39 Gly40del in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala39 Gly40del variant details
- gnomAD 1-7965346-TGGCTGG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.597
- CADD 21.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available