E18V (p.Glu18Val) variant of ALMS1 (Q8TCU4)
E18V (p.Glu18Val) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions and population frequency data.
E18V (p.Glu18Val) variant details
- p.Glu18Val
- gnomAD rs1159662032
- Missense
- AlphaMissense 0.16
- MetaLR 0.03
- MetaSVM -1.04
- CADD 19.80
- PolyPhen-2 0.89
- SIFT 0.13
- Most common in the Ashkenazi Jewish population (allele frequency 4.9e-05)