M125L (p.Met125Leu) variant of ABCA1 (O95477)
M125L (p.Met125Leu) 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.
M125L (p.Met125Leu) variant details
- p.Met125Leu
- TOPMed rs1364351263
- gnomAD rs1364351263
- Uncertain significance
- Cardiovascular phenotype
- Missense
- MetaLR 0.43
- MetaSVM -0.60
- SIFT 0.61
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Structural context available