E152G (p.Glu152Gly) variant of ABCA1 (O95477)
E152G (p.Glu152Gly) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
E152G (p.Glu152Gly) variant details
- p.Glu152Gly
- gnomAD rs1330498826
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.88
- MetaLR 0.94
- MetaSVM 1.08
- CADD 27.90
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available