L113P (p.Leu113Pro) variant of ABCA1 (O95477)
L113P (p.Leu113Pro) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
L113P (p.Leu113Pro) variant details
- p.Leu113Pro
- 1000Genomes rs2119172669
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.85
- MetaLR 0.39
- MetaSVM -0.14
- CADD 29.80
- SIFT 0.00
- Population evidence available
- Structural context available