D58E (p.Asp58Glu) variant of APOA5 (Apolipoprotein A-V)
D58E (p.Asp58Glu) 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, published literature, and structural context.
D58E (p.Asp58Glu) variant details
- p.Asp58Glu
- gnomAD 11-116791055-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.12
- CADD 14.80
- PolyPhen-2 0.01
- SIFT 0.42
- Population evidence available
- Structural context available
- Literature evidence available