L144P (p.Leu144Pro) variant of ABCA1 (O95477)
L144P (p.Leu144Pro) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
L144P (p.Leu144Pro) variant details
- p.Leu144Pro
- ExAC rs751151447
- gnomAD rs751151447
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.74
- MetaLR 0.94
- MetaSVM 1.08
- CADD 24.30
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00032)
- Structural context available