E6Q (p.Glu6Gln) variant of EPAS1 (Q99814)
E6Q (p.Glu6Gln) 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.
E6Q (p.Glu6Gln) variant details
- p.Glu6Gln
- TOPMed rs1558578534
- Uncertain significance
- Missense
- MetaLR 0.13
- MetaSVM -1.00
- SIFT 0.34
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available