C30S (p.Cys30Ser) variant of SH2B3 (SH2B adapter protein 3)
C30S (p.Cys30Ser) in SH2B3 (SH2B adapter protein 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes variant effect predictions and structural context.
C30S (p.Cys30Ser) variant details
- p.Cys30Ser
- TOPMed rs1871229237
- Uncertain significance
- Inborn genetic diseases
- Missense
- MetaLR 0.69
- MetaSVM 0.51
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available