E28E (p.Glu28Glu) variant of SH2B3 (SH2B adapter protein 3)
E28E (p.Glu28Glu) in SH2B3 (SH2B adapter protein 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
E28E (p.Glu28Glu) variant details
- p.Glu28Glu
- rs1180458317
- gnomAD 12-111418229-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.236
- CADD 8.61
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available