Q45H (p.Gln45His) variant of PARK7 (Parkinson disease protein 7)
Q45H (p.Gln45His) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
Q45H (p.Gln45His) variant details
- p.Gln45His
- ExAC rs776602132
- TOPMed rs776602132
- gnomAD rs776602132
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.18
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00017)
- Structural context available