L9F (p.Leu9Phe) variant of ABCA1 (O95477)
L9F (p.Leu9Phe) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
L9F (p.Leu9Phe) variant details
- p.Leu9Phe
- gnomAD rs1232298897
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.64
- CADD 23.40
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available