K18N (p.Lys18Asn) variant of SOS1 (Son of sevenless homolog 1)
K18N (p.Lys18Asn) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The record also includes structural context.
K18N (p.Lys18Asn) variant details
- p.Lys18Asn
- rs2465606345
- ClinGen CA346374635
- ClinVar RCV003832305
- Uncertain significance
- RASopathy
- Missense
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available