Q134E (p.Gln134Glu) variant of ABCA1 (O95477)
Q134E (p.Gln134Glu) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
Q134E (p.Gln134Glu) variant details
- p.Gln134Glu
- ExAC rs763565713
- TOPMed rs763565713
- gnomAD rs763565713
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.12
- MetaLR 0.74
- MetaSVM -0.08
- CADD 8.47
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available