E22K (p.Glu22Lys) variant of ALMS1 (Q8TCU4)
E22K (p.Glu22Lys) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions and population frequency data.
E22K (p.Glu22Lys) variant details
- p.Glu22Lys
- Ensembl rs1574423734
- Missense
- MetaLR 0.03
- MetaSVM -1.05
- CADD 18.30
- PolyPhen-2 0.10
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 6e-06)