Q50* (p.Gln50Ter) variant of PTPN4 (P29074)
Q50* (p.Gln50Ter) in PTPN4 (P29074) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
Q50* (p.Gln50Ter) variant details
- p.Gln50Ter
- gnomAD 2-119862545-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.873
- CADD 39.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available