E26A (p.Glu26Ala) variant of ALMS1 (Q8TCU4)
E26A (p.Glu26Ala) 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; Cardiovascular phenotype. The record also includes variant effect predictions, population frequency data, and published literature.
E26A (p.Glu26Ala) variant details
- p.Glu26Ala
- rs1670512146
- ClinGen CA347250558
- ClinVar RCV002715052
- ClinVar RCV003167637
- Uncertain significance
- Alstrom syndrome; Cardiovascular phenotype
- Missense
- MetaLR 0.03
- MetaSVM -0.98
- CADD 9.58
- PolyPhen-2 0.42
- SIFT 0.45
- ClinVar: Uncertain significance (Alstrom syndrome; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Cited in: Alström Syndrome. (PMID 20301444)
- Cited in: Clinical utility gene card for: Alström syndrome. (PMID 21522186)