E18A (p.Glu18Ala) variant of ALMS1 (Q8TCU4)
E18A (p.Glu18Ala) in ALMS1 (Q8TCU4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes variant effect predictions.
E18A (p.Glu18Ala) variant details
- p.Glu18Ala
- rs1159662032
- ClinGen CA347250495
- ClinVar RCV004521803
- Uncertain significance
- Cardiovascular phenotype
- Missense
- AlphaMissense 0.16
- MetaLR 0.03
- MetaSVM -1.04
- PolyPhen-2 0.89
- MutPred 0.06
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance