E52K (p.Glu52Lys) variant of APOA5 (Apolipoprotein A-V)
E52K (p.Glu52Lys) in APOA5 (Apolipoprotein A-V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
E52K (p.Glu52Lys) variant details
- p.Glu52Lys
- ExAC rs755144803
- gnomAD rs755144803
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.13
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available