Q45Q (p.Gln45Gln) variant of PARK7 (Parkinson disease protein 7)
Q45Q (p.Gln45Gln) in PARK7 (Parkinson disease protein 7) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
Q45Q (p.Gln45Gln) variant details
- p.Gln45Gln
- rs776602132
- gnomAD 1-7965368-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.196
- CADD 9.93
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available