E13Q (p.Glu13Gln) variant of EPAS1 (Q99814)
E13Q (p.Glu13Gln) 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.
E13Q (p.Glu13Gln) variant details
- p.Glu13Gln
- NCI-TCGA Cosmic COSV5538
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.17
- MetaSVM -0.75
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available