H80Y (p.His80Tyr) variant of SOS2 (Son of sevenless homolog 2)
H80Y (p.His80Tyr) in SOS2 (Son of sevenless homolog 2) 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.
H80Y (p.His80Tyr) variant details
- p.His80Tyr
- rs2503193817
- ClinGen CA389650334
- ClinVar RCV003301375
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available