E16A (p.Glu16Ala) variant of PRKN (O60260)
E16A (p.Glu16Ala) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E16A (p.Glu16Ala) variant details
- p.Glu16Ala
- TOPMed rs199841689
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.81
- MetaLR 0.58
- MetaSVM 0.25
- CADD 27.00
- PolyPhen-2 0.96
- SIFT 0.05
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.94