E14G (p.Glu14Gly) variant of SOS1 (Son of sevenless homolog 1)
E14G (p.Glu14Gly) in SOS1 (Son of sevenless homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
E14G (p.Glu14Gly) variant details
- p.Glu14Gly
- ExAC rs750790046
- gnomAD rs750790046
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.64
- CADD 32.00
- PolyPhen-2 0.77
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.8e-05)
- Structural context available