E36D (p.Glu36Asp) variant of EPAS1 (Q99814)
E36D (p.Glu36Asp) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
E36D (p.Glu36Asp) variant details
- p.Glu36Asp
- ExAC rs764991841
- TOPMed rs764991841
- gnomAD rs764991841
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.18
- MetaLR 0.06
- MetaSVM -1.08
- CADD 17.80
- PolyPhen-2 0.11
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available