I135V (p.Ile135Val) variant of ABCA1 (O95477)
I135V (p.Ile135Val) 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 record also includes variant effect predictions and structural context.
I135V (p.Ile135Val) variant details
- p.Ile135Val
- TOPMed rs1838827223
- Uncertain significance
- Cardiovascular phenotype
- Missense
- MetaLR 0.60
- MetaSVM -0.26
- SIFT 0.23
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Structural context available