E17K (p.Glu17Lys) variant of ALMS1 (Q8TCU4)
E17K (p.Glu17Lys) in ALMS1 (Q8TCU4) is a missense change. Clinical records from ClinVar 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.
E17K (p.Glu17Lys) variant details
- p.Glu17Lys
- TOPMed rs1407290993
- gnomAD rs1407290993
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- MetaLR 0.06
- MetaSVM -1.08
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- UniProt: Uncertain significance
- Population evidence available