R65K (p.Arg65Lys) variant of SOS2 (Son of sevenless homolog 2)
R65K (p.Arg65Lys) 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.
R65K (p.Arg65Lys) variant details
- p.Arg65Lys
- rs2503209313
- ClinGen CA389651031
- ClinVar RCV004364016
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available