H33Y (p.His33Tyr) variant of SH2B3 (SH2B adapter protein 3)
H33Y (p.His33Tyr) 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 0.81 / 1. The record also includes population frequency data and structural context.
H33Y (p.His33Tyr) variant details
- p.His33Tyr
- ExAC rs761842617
- gnomAD rs761842617
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.69
- MetaLR 0.66
- MetaSVM 0.49
- CADD 23.90
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available