E14K (p.Glu14Lys) variant of ALMS1 (Q8TCU4)
E14K (p.Glu14Lys) in ALMS1 (Q8TCU4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes variant effect predictions and population frequency data.
E14K (p.Glu14Lys) variant details
- p.Glu14Lys
- rs2465969974
- ClinGen CA347250462
- ClinVar RCV002333735
- Uncertain significance
- Cardiovascular phenotype
- Missense
- MetaLR 0.08
- MetaSVM -1.10
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.5e-06)