D4E (p.Asp4Glu) variant of EPAS1 (Q99814)
D4E (p.Asp4Glu) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
D4E (p.Asp4Glu) variant details
- p.Asp4Glu
- ExAC rs775997195
- gnomAD rs775997195
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.04
- MetaLR 0.05
- MetaSVM -1.01
- CADD 20.70
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available