H45Q (p.His45Gln) variant of EPAS1 (Q99814)
H45Q (p.His45Gln) in EPAS1 (Q99814) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and structural context.
H45Q (p.His45Gln) variant details
- p.His45Gln
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.03
- MetaSVM -1.07
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available