E20V (p.Glu20Val) variant of ALMS1 (Q8TCU4)
E20V (p.Glu20Val) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions and population frequency data.
E20V (p.Glu20Val) variant details
- p.Glu20Val
- Ensembl rs1558624552
- Missense
- MetaLR 0.04
- MetaSVM -1.06
- CADD 15.40
- PolyPhen-2 0.94
- SIFT 0.13
- Most common in the South Asian population (allele frequency 3e-05)