A3S (p.Ala3Ser) variant of EPAS1 (Q99814)
A3S (p.Ala3Ser) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- gnomAD 2-46297918-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.08
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available