Q45R (p.Gln45Arg) variant of PARK7 (Parkinson disease protein 7)
Q45R (p.Gln45Arg) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
Q45R (p.Gln45Arg) variant details
- p.Gln45Arg
- gnomAD 1-7965367-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.33
- MetaLR 0.18
- MetaSVM -0.99
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available