Q46K (p.Gln46Lys) variant of APOA5 (Apolipoprotein A-V)
Q46K (p.Gln46Lys) in APOA5 (Apolipoprotein A-V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
Q46K (p.Gln46Lys) variant details
- p.Gln46Lys
- TOPMed rs1163222681
- gnomAD rs1163222681
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.27
- CADD 18.60
- PolyPhen-2 0.05
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available