E14K (p.Glu14Lys) variant of SOS1 (Son of sevenless homolog 1)
E14K (p.Glu14Lys) 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 Cardiovascular phenotype; RASopathy. The record also includes structural context.
E14K (p.Glu14Lys) variant details
- p.Glu14Lys
- rs2148243262
- ClinGen CA346374696
- ClinVar RCV002323331
- ClinVar RCV003655364
- Uncertain significance
- Cardiovascular phenotype; RASopathy
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available