R27G (p.Arg27Gly) variant of EPAS1 (Q99814)
R27G (p.Arg27Gly) in EPAS1 (Q99814) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
R27G (p.Arg27Gly) variant details
- p.Arg27Gly
- Ensembl rs2103616168
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available