T120I (p.Thr120Ile) variant of ABCA1 (O95477)
T120I (p.Thr120Ile) in ABCA1 (O95477) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
T120I (p.Thr120Ile) variant details
- p.Thr120Ile
- TOPMed rs1391677880
- gnomAD rs1391677880
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.43
- MetaLR 0.86
- MetaSVM 0.85
- CADD 22.40
- PolyPhen-2 0.13
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.9e-05)
- Structural context available