S46A (p.Ser46Ala) variant of EPHA3 (Ephrin type-A receptor 3)
S46A (p.Ser46Ala) in EPHA3 (Ephrin type-A receptor 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S46A (p.Ser46Ala) variant details
- p.Ser46Ala
- gnomAD 3-89127256-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.24
- CADD 23.20
- PolyPhen-2 0.92
- SIFT 0.81
- Population evidence available
- Structural context available
- Literature evidence available