E17* (p.Glu17Ter) variant of SH2D1A (SH2 domain-containing protein 1A)
E17* (p.Glu17Ter) in SH2D1A (SH2 domain-containing protein 1A) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
E17* (p.Glu17Ter) variant details
- p.Glu17Ter
- gnomAD X-124346691-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.779
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available