E116Q (p.Glu116Gln) variant of SOS1 (Son of sevenless homolog 1)
E116Q (p.Glu116Gln) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
E116Q (p.Glu116Gln) variant details
- p.Glu116Gln
- ExAC rs747505741
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.69
- AlphaMissense 0.84
- MetaLR 0.64
- MetaSVM 0.37
- CADD 33.00
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available