M175L (p.Met175Leu) variant of SOS2 (Son of sevenless homolog 2)
M175L (p.Met175Leu) 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 Noonan syndrome 9. The record also includes published literature and structural context.
M175L (p.Met175Leu) variant details
- p.Met175Leu
- rs1336823806
- ClinGen CA389648349
- ClinVar RCV001299539
- Ensembl rs1336823806
- Uncertain significance
- Noonan syndrome 9
- Missense
- ClinVar: Uncertain significance (Noonan syndrome 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)