E18K (p.Glu18Lys) variant of PARK7 (Parkinson disease protein 7)
E18K (p.Glu18Lys) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
E18K (p.Glu18Lys) variant details
- p.Glu18Lys
- ExAC rs764771957
- gnomAD rs764771957
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.91
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.6e-05)
- Structural context available