D53E (p.Asp53Glu) variant of PRKN (O60260)
D53E (p.Asp53Glu) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D53E (p.Asp53Glu) variant details
- p.Asp53Glu
- ExAC rs770775415
- gnomAD rs770775415
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.31
- MetaLR 0.74
- MetaSVM 0.26
- CADD 19.20
- PolyPhen-2 0.03
- SIFT 0.26
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.535