E53A (p.Glu53Ala) variant of ABCA1 (O95477)
E53A (p.Glu53Ala) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
E53A (p.Glu53Ala) variant details
- p.Glu53Ala
- TOPMed rs1051504651
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.86
- CADD 33.00
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available