G88R (p.Gly88Arg) variant of ABCA1 (O95477)
G88R (p.Gly88Arg) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
G88R (p.Gly88Arg) variant details
- p.Gly88Arg
- Ensembl rs2119176173
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.89
- MetaLR 1.00
- MetaSVM 0.93
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available