R100K (p.Arg100Lys) variant of SOS2 (Son of sevenless homolog 2)
R100K (p.Arg100Lys) 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 variant effect predictions and structural context.
R100K (p.Arg100Lys) variant details
- p.Arg100Lys
- gnomAD rs1298793905
- Uncertain significance
- Noonan syndrome 9
- Missense
- MetaLR 0.75
- MetaSVM 0.65
- SIFT 0.00
- ClinVar: Uncertain significance (Noonan syndrome 9)
- UniProt: Uncertain significance
- Structural context available