E28Q (p.Glu28Gln) variant of SH2B3 (SH2B adapter protein 3)
E28Q (p.Glu28Gln) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
E28Q (p.Glu28Gln) variant details
- p.Glu28Gln
- gnomAD rs1433759305
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.31
- ESM-1b 0.85
- AlphaMissense 0.24
- MetaLR 0.26
- MetaSVM -0.64
- CADD 26.50
- Most common in the East Asian population (allele frequency 5.2e-05)
- Structural context available