I110N (p.Ile110Asn) variant of SOS1 (Son of sevenless homolog 1)
I110N (p.Ile110Asn) 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 record also includes structural context.
I110N (p.Ile110Asn) variant details
- p.Ile110Asn
- rs2465361100
- ClinGen CA346373811
- ClinVar RCV002944092
- NCI-TCGA TCGA novel
- Uncertain significance
- RASopathy
- Missense
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available