S16* (p.Ser16Ter) variant of SH2B3 (SH2B adapter protein 3)
S16* (p.Ser16Ter) in SH2B3 (SH2B adapter protein 3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S16* (p.Ser16Ter) variant details
- p.Ser16Ter
- ExAC rs779622961
- gnomAD rs779622961
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.376
- CADD 32.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available