A168E (p.Ala168Glu) variant of SOS2 (Son of sevenless homolog 2)
A168E (p.Ala168Glu) in SOS2 (Son of sevenless homolog 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
A168E (p.Ala168Glu) variant details
- p.Ala168Glu
- ExAC rs756399613
- TOPMed rs756399613
- gnomAD rs756399613
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.87
- MetaLR 0.75
- MetaSVM 0.66
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available