E72K (p.Glu72Lys) variant of SOS2 (Son of sevenless homolog 2)
E72K (p.Glu72Lys) in SOS2 (Son of sevenless homolog 2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Noonan syndrome 9. The record also includes structural context.
E72K (p.Glu72Lys) variant details
- p.Glu72Lys
- NCI-TCGA Cosmic COSV9936
- cosmic curated COSV99366
- Uncertain significance
- Noonan syndrome 9
- Missense
- ClinVar: Uncertain significance (Noonan syndrome 9)
- UniProt: Uncertain significance
- Structural context available