R19I (p.Arg19Ile) variant of ABCA1 (O95477)
R19I (p.Arg19Ile) 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 0.66 / 1. The record also includes population frequency data and structural context.
R19I (p.Arg19Ile) variant details
- p.Arg19Ile
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.59
- CADD 25.20
- PolyPhen-2 0.44
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available