L128Q (p.Leu128Gln) variant of SOS2 (Son of sevenless homolog 2)
L128Q (p.Leu128Gln) 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.
L128Q (p.Leu128Gln) variant details
- p.Leu128Gln
- rs2503186072
- ClinGen CA389649720
- ClinVar RCV002355440
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available