E21K (p.Glu21Lys) variant of ALMS1 (Q8TCU4)
E21K (p.Glu21Lys) in ALMS1 (Q8TCU4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Alstrom syndrome.
E21K (p.Glu21Lys) variant details
- p.Glu21Lys
- TOPMed rs1438410766
- gnomAD rs1438410766
- Uncertain significance
- Alstrom syndrome
- Missense
- ClinVar: Uncertain significance (Alstrom syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic