E31E (p.Glu31Glu) variant of SH2B3 (SH2B adapter protein 3)
E31E (p.Glu31Glu) in SH2B3 (SH2B adapter protein 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E31E (p.Glu31Glu) variant details
- p.Glu31Glu
- gnomAD 12-111418238-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.381
- CADD 7.12
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available