S63* (p.Ser63Ter) variant of SH2D1A (SH2 domain-containing protein 1A)
S63* (p.Ser63Ter) in SH2D1A (SH2 domain-containing protein 1A) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
S63* (p.Ser63Ter) variant details
- p.Ser63Ter
- gnomAD X-124370236-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.52
- MetaLR 0.78
- MetaSVM 0.66
- CADD 20.20
- PolyPhen-2 0.02
- SIFT 0.43
- Population evidence available
- Structural context available
- Literature evidence available