E26D (p.Glu26Asp) variant of ALMS1 (Q8TCU4)
E26D (p.Glu26Asp) 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.
E26D (p.Glu26Asp) variant details
- p.Glu26Asp
- gnomAD rs13009604
- Likely benign
- Missense
- MetaLR 0.03
- MetaSVM -1.01
- CADD 11.80
- PolyPhen-2 0.42
- SIFT 0.25
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available