H55R (p.His55Arg) variant of ABCA1 (O95477)
H55R (p.His55Arg) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
H55R (p.His55Arg) variant details
- p.His55Arg
- ExAC rs754046194
- gnomAD rs754046194
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.92
- CADD 26.30
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available