L42P (p.Leu42Pro) variant of EPHA3 (Ephrin type-A receptor 3)
L42P (p.Leu42Pro) in EPHA3 (Ephrin type-A receptor 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
L42P (p.Leu42Pro) variant details
- p.Leu42Pro
- TOPMed rs756018331
- gnomAD rs756018331
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.50
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available