E25K (p.Glu25Lys) variant of ALMS1 (Q8TCU4)
E25K (p.Glu25Lys) in ALMS1 (Q8TCU4) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions and population frequency data.
E25K (p.Glu25Lys) variant details
- p.Glu25Lys
- Ensembl rs1285425883
- Pathogenic
- Missense
- MetaLR 0.04
- MetaSVM -1.00
- CADD 17.20
- PolyPhen-2 0.01
- SIFT 0.22
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available