Q19* (p.Gln19Ter) variant of PTPN2 (P17706)
Q19* (p.Gln19Ter) in PTPN2 (P17706) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
Q19* (p.Gln19Ter) variant details
- p.Gln19Ter
- TOPMed rs1203075385
- gnomAD rs1203075385
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.843
- CADD 42.00
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available