H33L (p.His33Leu) variant of SH2B3 (SH2B adapter protein 3)
H33L (p.His33Leu) 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 0.76 / 1. The record also includes population frequency data and structural context.
H33L (p.His33Leu) variant details
- p.His33Leu
- ExAC rs765323352
- gnomAD rs765323352
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.85
- MetaLR 0.65
- MetaSVM 0.41
- CADD 24.70
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available