A17A (p.Ala17Ala) variant of SH2B3 (SH2B adapter protein 3)
A17A (p.Ala17Ala) in SH2B3 (SH2B adapter protein 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A17A (p.Ala17Ala) variant details
- p.Ala17Ala
- gnomAD 12-111418196-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.27
- CADD 1.74
- Population evidence available
- Structural context available
- Literature evidence available