E16K (p.Glu16Lys) variant of ALMS1 (Q8TCU4)
E16K (p.Glu16Lys) 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; not provided. The record also includes variant effect predictions and population frequency data.
E16K (p.Glu16Lys) variant details
- p.Glu16Lys
- rs1174023229
- ClinGen CA347250478
- ClinVar RCV001766036
- ClinVar RCV002334681
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- AlphaMissense 0.21
- MetaLR 0.04
- MetaSVM -1.07
- CADD 24.90
- PolyPhen-2 0.70
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.7e-05)