P47L (p.Pro47Leu) variant of ABCA1 (O95477)
P47L (p.Pro47Leu) in ABCA1 (O95477) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
P47L (p.Pro47Leu) variant details
- p.Pro47Leu
- TOPMed rs1839475530
- gnomAD rs1839475530
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- REVEL 0.74
- CADD 28.80
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available