E43V (p.Glu43Val) variant of SOS2 (Son of sevenless homolog 2)
E43V (p.Glu43Val) in SOS2 (Son of sevenless homolog 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
E43V (p.Glu43Val) variant details
- p.Glu43Val
- Ensembl rs1886595959
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.68
- MetaLR 0.56
- MetaSVM 0.21
- CADD 24.90
- PolyPhen-2 0.28
- SIFT 0.01
- Population evidence available
- Structural context available