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 available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
C30S (p.Cys30Ser) variant details
- p.Cys30Ser
- TOPMed rs1871229237
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.97
- 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