C23R (p.Cys23Arg) variant of ABCA1 (O95477)
C23R (p.Cys23Arg) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
C23R (p.Cys23Arg) variant details
- p.Cys23Arg
- TOPMed rs1407526873
- gnomAD rs1407526873
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.35
- CADD 25.40
- PolyPhen-2 0.07
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available