R126L (p.Arg126Leu) variant of ABCA1 (O95477)
R126L (p.Arg126Leu) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R126L (p.Arg126Leu) variant details
- p.Arg126Leu
- ESP rs138438101
- ExAC rs138438101
- TOPMed rs138438101
- gnomAD rs138438101
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.23
- MetaLR 0.66
- MetaSVM -0.28
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available