A14A (p.Ala14Ala) variant of SH2B3 (SH2B adapter protein 3)
A14A (p.Ala14Ala) in SH2B3 (SH2B adapter protein 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A14A (p.Ala14Ala) variant details
- p.Ala14Ala
- rs750025226
- gnomAD 12-111418187-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0935
- CADD 1.82
- Population evidence available
- Structural context available
- Literature evidence available