S49L (p.Ser49Leu) variant of EPHA3 (Ephrin type-A receptor 3)
S49L (p.Ser49Leu) in EPHA3 (Ephrin type-A receptor 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S49L (p.Ser49Leu) variant details
- p.Ser49Leu
- gnomAD rs1559743096
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.10
- CADD 23.00
- PolyPhen-2 0.04
- SIFT 0.16
- Population evidence available
- Structural context available