E79Q (p.Glu79Gln) variant of PRKN (O60260)
E79Q (p.Glu79Gln) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E79Q (p.Glu79Gln) variant details
- p.Glu79Gln
- ExAC rs770994041
- TOPMed rs770994041
- gnomAD rs770994041
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.20
- MetaLR 0.50
- MetaSVM -0.35
- CADD 9.91
- PolyPhen-2 0.08
- SIFT 0.44
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.923