E14R (p.Glu14Arg) variant of ALMS1 (Q8TCU4)
E14R (p.Glu14Arg) in ALMS1 (Q8TCU4) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
E14R (p.Glu14Arg) variant details
- p.Glu14Arg
- gnomAD 2-73385906-AG-A
- Frameshift
- CADD 27.00
- Population evidence available
- Literature evidence available