P80R (p.Pro80Arg) variant of ABCA1 (O95477)
P80R (p.Pro80Arg) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
P80R (p.Pro80Arg) variant details
- p.Pro80Arg
- TOPMed rs983387544
- gnomAD rs983387544
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.86
- MetaLR 0.97
- MetaSVM 1.11
- CADD 28.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available