C54G (p.Cys54Gly) variant of ABCA1 (O95477)
C54G (p.Cys54Gly) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
C54G (p.Cys54Gly) variant details
- p.Cys54Gly
- Ensembl rs1564254351
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.97
- CADD 28.70
- PolyPhen-2 0.98
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available