E14G (p.Glu14Gly) variant of ALMS1 (Q8TCU4)
E14G (p.Glu14Gly) in ALMS1 (Q8TCU4) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
E14G (p.Glu14Gly) variant details
- p.Glu14Gly
- gnomAD 2-73385906-AGGAGG
- Frameshift
- CADD 30.00
- Population evidence available
- Literature evidence available