M122L (p.Met122Leu) variant of ABCA1 (O95477)
M122L (p.Met122Leu) 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 0.22 / 1. The record also includes population frequency data and structural context.
M122L (p.Met122Leu) variant details
- p.Met122Leu
- rs948927879
- ClinGen CA197381924
- ClinVar RCV004521440
- TOPMed rs948927879
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.20
- MetaLR 0.41
- MetaSVM -0.32
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available