E116V (p.Glu116Val) variant of SOS1 (Son of sevenless homolog 1)
E116V (p.Glu116Val) 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 0.76 / 1. The record also includes structural context.
E116V (p.Glu116Val) variant details
- p.Glu116Val
- rs2124607524
- ClinGen CA346373752
- ClinVar RCV002005302
- Ensembl rs2124607524
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- AlphaMissense 0.86
- MetaLR 0.74
- MetaSVM 0.60
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.67
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available