S16T (p.Ser16Thr) variant of SOS2 (Son of sevenless homolog 2)
S16T (p.Ser16Thr) in SOS2 (Son of sevenless homolog 2) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Noonan syndrome 9. The record also includes variant effect predictions and structural context.
S16T (p.Ser16Thr) variant details
- p.Ser16Thr
- TOPMed rs1364159457
- gnomAD rs1364159457
- Likely benign
- Noonan syndrome 9
- Missense
- MetaLR 0.41
- MetaSVM -0.50
- SIFT 0.03
- ClinVar: Likely benign (Noonan syndrome 9)
- UniProt: Likely benign
- Structural context available