E19K (p.Glu19Lys) variant of ALMS1 (Q8TCU4)
E19K (p.Glu19Lys) in ALMS1 (Q8TCU4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, population frequency data, and published literature.
E19K (p.Glu19Lys) variant details
- p.Glu19Lys
- rs939208094
- ClinGen CA50368738
- ClinVar RCV000669999
- ClinVar RCV001662738
- Uncertain significance
- Missense
- MetaLR 0.03
- MetaSVM -1.01
- CADD 17.70
- PolyPhen-2 0.66
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: Alström Syndrome. (PMID 20301444)
- Cited in: Clinical utility gene card for: Alström syndrome. (PMID 21522186)