R99Q (p.Arg99Gln) variant of SOS2 (Son of sevenless homolog 2)
R99Q (p.Arg99Gln) 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 population frequency data, published literature, and structural context.
R99Q (p.Arg99Gln) variant details
- p.Arg99Gln
- rs369592322
- ClinGen CA260722383
- cosmic curated COSV53569
- ClinVar RCV002023593
- Uncertain significance
- Noonan syndrome 9
- Missense
- ClinVar: Uncertain significance (Noonan syndrome 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)