H39R (p.His39Arg) variant of EPAS1 (Q99814)
H39R (p.His39Arg) in EPAS1 (Q99814) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes variant effect predictions and structural context.
H39R (p.His39Arg) variant details
- p.His39Arg
- Ensembl rs2103616225
- Uncertain significance
- Inborn genetic diseases
- Missense
- MetaLR 0.05
- MetaSVM -1.11
- SIFT 0.10
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available