K47* (p.Lys47Ter) variant of PTPN4 (P29074)
K47* (p.Lys47Ter) in PTPN4 (P29074) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
K47* (p.Lys47Ter) variant details
- p.Lys47Ter
- gnomAD 2-119862536-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.731
- CADD 40.00
- Population evidence available
- Structural context available
- Literature evidence available