M175V (p.Met175Val) variant of SOS2 (Son of sevenless homolog 2)
M175V (p.Met175Val) 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 SOS2-related disorder; Noonan syndrome 9. The record also includes published literature and structural context.
M175V (p.Met175Val) variant details
- p.Met175Val
- rs1336823806
- ClinGen CA389648348
- ClinVar RCV003394485
- ClinVar RCV003592037
- Uncertain significance
- SOS2-related disorder; Noonan syndrome 9
- Missense
- ClinVar: Uncertain significance (SOS2-related disorder; Noonan syndrome 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)