S3* (p.Ser3Ter) variant of PTPN11 (Q06124)
S3* (p.Ser3Ter) in PTPN11 (Q06124) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
S3* (p.Ser3Ter) variant details
- p.Ser3Ter
- gnomAD 12-112419119-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.851
- CADD 48.00
- Population evidence available
- Structural context available
- Literature evidence available