E32G (p.Glu32Gly) variant of EPAS1 (Q99814)
E32G (p.Glu32Gly) in EPAS1 (Q99814) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and structural context.
E32G (p.Glu32Gly) variant details
- p.Glu32Gly
- Ensembl rs1684041216
- Uncertain significance
- Missense
- MetaLR 0.18
- MetaSVM -0.73
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available