K4R (p.Lys4Arg) variant of PARK7 (Parkinson disease protein 7)
K4R (p.Lys4Arg) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
K4R (p.Lys4Arg) variant details
- p.Lys4Arg
- 1000Genomes rs190738218
- ExAC rs190738218
- TOPMed rs190738218
- gnomAD rs190738218
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.57
- CADD 25.10
- PolyPhen-2 0.39
- SIFT 0.04
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available