Y84H (p.Tyr84His) variant of ABCA1 (O95477)
Y84H (p.Tyr84His) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
Y84H (p.Tyr84His) variant details
- p.Tyr84His
- ExAC rs766158859
- gnomAD rs766158859
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.38
- MetaLR 0.83
- MetaSVM 0.63
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.51
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available