E28G (p.Glu28Gly) variant of PRKN (O60260)
E28G (p.Glu28Gly) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E28G (p.Glu28Gly) variant details
- p.Glu28Gly
- 1000Genomes rs200805156
- ExAC rs200805156
- gnomAD rs200805156
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.74
- MetaLR 0.53
- MetaSVM 0.14
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.367