S46Y (p.Ser46Tyr) variant of EPHA3 (Ephrin type-A receptor 3)
S46Y (p.Ser46Tyr) in EPHA3 (Ephrin type-A receptor 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
S46Y (p.Ser46Tyr) variant details
- p.Ser46Tyr
- gnomAD 3-89127257-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.32
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available