W85C (p.Trp85Cys) variant of SOS1 (Son of sevenless homolog 1)
W85C (p.Trp85Cys) in SOS1 (Son of sevenless homolog 1) 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 structural context.
W85C (p.Trp85Cys) variant details
- p.Trp85Cys
- rs2465361618
- ClinGen CA346373974
- ClinVar RCV003043174
- Likely pathogenic
- RASopathy
- Missense
- ClinVar: Likely pathogenic (RASopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available