E19A (p.Glu19Ala) variant of ALMS1 (Q8TCU4)
E19A (p.Glu19Ala) in ALMS1 (Q8TCU4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes variant effect predictions and population frequency data.
E19A (p.Glu19Ala) variant details
- p.Glu19Ala
- NCI-TCGA TCGA novel
- Uncertain significance
- Cardiovascular phenotype
- Missense
- MetaLR 0.02
- MetaSVM -0.99
- CADD 16.90
- PolyPhen-2 0.96
- SIFT 0.07
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Population evidence available