R43L (p.Arg43Leu) variant of ABCA1 (O95477)
R43L (p.Arg43Leu) in ABCA1 (O95477) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
R43L (p.Arg43Leu) variant details
- p.Arg43Leu
- ExAC rs767261058
- TOPMed rs767261058
- gnomAD rs767261058
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.95
- CADD 28.80
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available