E9V (p.Glu9Val) variant of SOS1 (Son of sevenless homolog 1)
E9V (p.Glu9Val) 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. The record also includes structural context.
E9V (p.Glu9Val) variant details
- p.Glu9Val
- rs2465606490
- ClinGen CA346374762
- ClinVar RCV002437382
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available