D21E (p.Asp21Glu) variant of EPAS1 (Q99814)
D21E (p.Asp21Glu) in EPAS1 (Q99814) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions and structural context.
D21E (p.Asp21Glu) variant details
- p.Asp21Glu
- ExAC rs780192014
- gnomAD rs780192014
- Likely benign
- Missense
- MetaLR 0.12
- MetaSVM -1.04
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available