E23D (p.Glu23Asp) variant of ALMS1 (Q8TCU4)
E23D (p.Glu23Asp) in ALMS1 (Q8TCU4) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions and population frequency data.
E23D (p.Glu23Asp) variant details
- p.Glu23Asp
- Ensembl rs1054040147
- Likely benign
- Missense
- MetaLR 0.02
- MetaSVM -0.98
- CADD 3.78
- PolyPhen-2 0.03
- SIFT 0.12
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.6e-06)