A38del (p.Ala38del) variant of SH2B3 (SH2B adapter protein 3)
A38del (p.Ala38del) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A38del (p.Ala38del) variant details
- gnomAD 12-111418250-AGCG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.308
- CADD 14.20
- Population evidence available
- Structural context available
- Literature evidence available