P48L (p.Pro48Leu) variant of ABCA1 (O95477)
P48L (p.Pro48Leu) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
P48L (p.Pro48Leu) variant details
- p.Pro48Leu
- gnomAD rs1195606986
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.55
- CADD 23.20
- PolyPhen-2 0.22
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available