R5* (p.Arg5Ter) variant of PTPN11 (Q06124)
R5* (p.Arg5Ter) in PTPN11 (Q06124) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R5* (p.Arg5Ter) variant details
- p.Arg5Ter
- gnomAD 12-112419124-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.72
- CADD 44.00
- Population evidence available
- Structural context available
- Literature evidence available