E28K (p.Glu28Lys) variant of ALMS1 (Q8TCU4)
E28K (p.Glu28Lys) 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; not provided; Cardiovascular phenotype. The record also includes variant effect predictions, population frequency data, and published literature.
E28K (p.Glu28Lys) variant details
- p.Glu28Lys
- rs1670512542
- ClinGen CA347250570
- ClinVar RCV001755146
- ClinVar RCV002489790
- Uncertain significance
- Alstrom syndrome; not provided; Cardiovascular phenotype
- Missense
- MetaLR 0.02
- MetaSVM -0.98
- CADD 15.20
- PolyPhen-2 0.36
- SIFT 0.39
- ClinVar: Uncertain significance (Alstrom syndrome; not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Cited in: Alström Syndrome. (PMID 20301444)
- Cited in: Clinical utility gene card for: Alström syndrome. (PMID 21522186)