M267K (p.Met267Lys) variant of SOS2 (Son of sevenless homolog 2)
M267K (p.Met267Lys) in SOS2 (Son of sevenless homolog 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of RASopathy. The record also includes published literature and structural context.
M267K (p.Met267Lys) variant details
- p.Met267Lys
- rs797045167
- ClinGen CA204984
- cosmic curated COSV53566
- ClinVar RCV000191031
- Likely pathogenic
- RASopathy
- Missense
- ClinVar: Likely pathogenic (RASopathy)
- EBI: Pathogenic (in NS9)
- UniProt: Pathogenic (in NS9)
- Structural context available
- Cited in: Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. (PMID 25795793)
- Cited in: Noonan Syndrome. (PMID 20301303)