E4D (p.Glu4Asp) variant of ALMS1 (Q8TCU4)
E4D (p.Glu4Asp) 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. The record also includes variant effect predictions, population frequency data, and published literature.
E4D (p.Glu4Asp) variant details
- p.Glu4Asp
- rs1260367236
- ClinGen CA347250359
- ClinVar RCV001889862
- TOPMed rs1260367236
- Uncertain significance
- Alstrom syndrome
- Missense
- MetaLR 0.07
- MetaSVM -1.09
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Alstrom syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 3.1e-05)
- Cited in: Alström Syndrome. (PMID 20301444)
- Cited in: Clinical utility gene card for: Alström syndrome. (PMID 21522186)