E49D (p.Glu49Asp) variant of PRKN (O60260)
E49D (p.Glu49Asp) in PRKN (O60260) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E49D (p.Glu49Asp) variant details
- p.Glu49Asp
- rs199762783
- ClinGen CA366477222
- ClinVar RCV001060078
- 1000Genomes rs199762783
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.41
- MetaLR 0.38
- MetaSVM -0.22
- CADD 23.70
- PolyPhen-2 0.52
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Parkin (PRKN) cellular abundance: score -0.0176