Q145L (p.Gln145Leu) variant of ABCA1 (O95477)
Q145L (p.Gln145Leu) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
Q145L (p.Gln145Leu) variant details
- p.Gln145Leu
- TOPMed rs1348849954
- gnomAD rs1348849954
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.39
- MetaLR 0.78
- MetaSVM 0.51
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available