E58Q (p.Glu58Gln) variant of APOA1 (Apolipoprotein A-I)
E58Q (p.Glu58Gln) in APOA1 (Apolipoprotein A-I) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
E58Q (p.Glu58Gln) variant details
- p.Glu58Gln
- gnomAD 11-116837029-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.31
- CADD 23.50
- PolyPhen-2 0.89
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available