E152A (p.Glu152Ala) variant of ABCA1 (O95477)
E152A (p.Glu152Ala) in ABCA1 (O95477) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
E152A (p.Glu152Ala) variant details
- p.Glu152Ala
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.85
- MetaLR 0.95
- MetaSVM 1.09
- CADD 26.60
- PolyPhen-2 0.88
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available