R19K (p.Arg19Lys) variant of ABCA1 (O95477)
R19K (p.Arg19Lys) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R19K (p.Arg19Lys) variant details
- p.Arg19Lys
- TOPMed rs1840847436
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.32
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available