L11P (p.Leu11Pro) variant of ABCA1 (O95477)
L11P (p.Leu11Pro) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
L11P (p.Leu11Pro) variant details
- p.Leu11Pro
- ExAC rs777372679
- gnomAD rs777372679
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.90
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available