E116G (p.Glu116Gly) variant of SOS1 (Son of sevenless homolog 1)
E116G (p.Glu116Gly) in SOS1 (Son of sevenless homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
E116G (p.Glu116Gly) variant details
- p.Glu116Gly
- cosmic curated COSV10470
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.90
- CADD 33.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available