A64E (p.Ala64Glu) variant of ABCA1 (O95477)
A64E (p.Ala64Glu) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
A64E (p.Ala64Glu) variant details
- p.Ala64Glu
- TOPMed rs1838979948
- gnomAD rs1838979948
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.89
- MetaLR 0.98
- MetaSVM 1.09
- CADD 28.60
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available