P22H (p.Pro22His) variant of PARK7 (Parkinson disease protein 7)
P22H (p.Pro22His) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
P22H (p.Pro22His) variant details
- p.Pro22His
- gnomAD 1-7962850-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.84
- MetaLR 0.80
- MetaSVM 0.77
- CADD 26.90
- PolyPhen-2 0.80
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available