A54T (p.Ala54Thr) variant of APOA5 (Apolipoprotein A-V)
A54T (p.Ala54Thr) in APOA5 (Apolipoprotein A-V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
A54T (p.Ala54Thr) variant details
- p.Ala54Thr
- Ensembl rs1738668644
- Missense
- Variant Prioritization Score for Impact Estimate 0.0749
- REVEL 0.08
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.80
- Population evidence available
- Structural context available