E81K (p.Glu81Lys) variant of APOA5 (Apolipoprotein A-V)
E81K (p.Glu81Lys) in APOA5 (Apolipoprotein A-V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
E81K (p.Glu81Lys) variant details
- p.Glu81Lys
- cosmic curated COSV57065
- ExAC rs775696556
- gnomAD rs775696556
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.11
- CADD 7.94
- PolyPhen-2 0.02
- SIFT 0.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available