E23A (p.Glu23Ala) variant of ALMS1 (Q8TCU4)
E23A (p.Glu23Ala) 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.
E23A (p.Glu23Ala) variant details
- p.Glu23Ala
- rs2465970389
- ClinGen CA347250536
- ClinVar RCV003382190
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance