V93I (p.Val93Ile) variant of ABCA1 (O95477)
V93I (p.Val93Ile) in ABCA1 (O95477) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
V93I (p.Val93Ile) variant details
- p.Val93Ile
- TOPMed rs1450935000
- gnomAD rs1450935000
- Conflicting interpretations
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.31
- MetaLR 0.83
- MetaSVM 0.53
- CADD 17.00
- PolyPhen-2 0.01
- SIFT 0.47
- ClinVar: Conflicting classifications of pathogenicity (not provided; Cardiovascular phenotype)
- UniProt: Conflicting interpretations
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available