A22G (p.Ala22Gly) variant of SH2B3 (SH2B adapter protein 3)
A22G (p.Ala22Gly) in SH2B3 (SH2B adapter protein 3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes structural context.
A22G (p.Ala22Gly) variant details
- p.Ala22Gly
- Ensembl rs2135546861
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available