G62* (p.Gly62Ter) variant of SH2D1A (SH2 domain-containing protein 1A)
G62* (p.Gly62Ter) in SH2D1A (SH2 domain-containing protein 1A) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
G62* (p.Gly62Ter) variant details
- p.Gly62Ter
- gnomAD X-124365814-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.72
- MetaLR 0.90
- MetaSVM 0.79
- CADD 32.00
- PolyPhen-2 0.93
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available