L7V (p.Leu7Val) variant of ABCA1 (O95477)
L7V (p.Leu7Val) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
L7V (p.Leu7Val) variant details
- p.Leu7Val
- TOPMed rs1840850202
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.18
- CADD 10.00
- PolyPhen-2 0.10
- SIFT 0.02
- Population evidence available
- Structural context available