K4E (p.Lys4Glu) variant of PARK7 (Parkinson disease protein 7)
K4E (p.Lys4Glu) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
K4E (p.Lys4Glu) variant details
- p.Lys4Glu
- TOPMed rs1490669574
- gnomAD rs1490669574
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.77
- CADD 31.00
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available