A2V (p.Ala2Val) variant of ABCA1 (O95477)
A2V (p.Ala2Val) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- TOPMed rs1840851606
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.53
- CADD 24.20
- PolyPhen-2 0.16
- SIFT 0.02
- Population evidence available
- Structural context available