E20K (p.Glu20Lys) variant of ALMS1 (Q8TCU4)
E20K (p.Glu20Lys) 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.
E20K (p.Glu20Lys) variant details
- p.Glu20Lys
- rs2465970198
- ClinGen CA347250507
- ClinVar RCV003017152
- Uncertain significance
- Alstrom syndrome
- Missense
- MetaLR 0.05
- MetaSVM -1.07
- CADD 21.20
- PolyPhen-2 0.99
- SIFT 0.09
- ClinVar: Uncertain significance (Alstrom syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.7e-06)
- Cited in: Alström Syndrome. (PMID 20301444)
- Cited in: Clinical utility gene card for: Alström syndrome. (PMID 21522186)