E41Q (p.Glu41Gln) variant of EPHA3 (Ephrin type-A receptor 3)
E41Q (p.Glu41Gln) in EPHA3 (Ephrin type-A receptor 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
E41Q (p.Glu41Gln) variant details
- p.Glu41Gln
- gnomAD 3-89127241-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.38
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available