E13V (p.Glu13Val) variant of ALMS1 (Q8TCU4)
E13V (p.Glu13Val) in ALMS1 (Q8TCU4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and population frequency data.
E13V (p.Glu13Val) variant details
- p.Glu13Val
- Ensembl rs1574423651
- Uncertain significance
- Missense
- AlphaMissense 0.54
- MetaLR 0.07
- MetaSVM -1.11
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available