A3G (p.Ala3Gly) variant of EPAS1 (Q99814)
A3G (p.Ala3Gly) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A3G (p.Ala3Gly) variant details
- p.Ala3Gly
- ExAC rs765544757
- TOPMed rs765544757
- gnomAD rs765544757
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.08
- MetaLR 0.13
- MetaSVM -0.98
- CADD 29.90
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available