I152F (p.Ile152Phe) variant of SOS2 (Son of sevenless homolog 2)
I152F (p.Ile152Phe) in SOS2 (Son of sevenless homolog 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Noonan syndrome 9. The record also includes published literature and structural context.
I152F (p.Ile152Phe) variant details
- p.Ile152Phe
- rs2503185669
- ClinGen CA389649557
- ClinVar RCV004093885
- ClinVar RCV005099582
- Uncertain significance
- Cardiovascular phenotype; Noonan syndrome 9
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype; Noonan syndrome 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)