G72W (p.Gly72Trp) variant of ABCA1 (O95477)
G72W (p.Gly72Trp) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
G72W (p.Gly72Trp) variant details
- p.Gly72Trp
- gnomAD rs1440897035
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.88
- MetaLR 1.00
- MetaSVM 0.93
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available