A88D (p.Ala88Asp) variant of SOS1 (Son of sevenless homolog 1)
A88D (p.Ala88Asp) 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.
A88D (p.Ala88Asp) variant details
- p.Ala88Asp
- rs2465361577
- ClinGen CA346373955
- ClinVar RCV002428624
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available