A3V (p.Ala3Val) variant of EPAS1 (Q99814)
A3V (p.Ala3Val) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- ExAC rs765544757
- TOPMed rs765544757
- gnomAD rs765544757
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.12
- MetaLR 0.14
- MetaSVM -0.93
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.59
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available