S121T (p.Ser121Thr) variant of ABCA1 (O95477)
S121T (p.Ser121Thr) in ABCA1 (O95477) is a missense change. Clinical records from ClinVar, EBI, 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 0.46 / 1. The record also includes population frequency data and structural context.
S121T (p.Ser121Thr) variant details
- p.Ser121Thr
- rs1564241066
- ClinGen CA374316008
- ClinVar RCV002452351
- TOPMed rs1564241066
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.32
- MetaLR 0.83
- MetaSVM 0.62
- CADD 16.60
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available