S46I (p.Ser46Ile) variant of EPAS1 (Q99814)
S46I (p.Ser46Ile) 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.
S46I (p.Ser46Ile) variant details
- p.Ser46Ile
- gnomAD rs1376666026
- Uncertain significance
- Missense
- MetaLR 0.11
- MetaSVM -0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available