Y48* (p.Tyr48Ter) variant of PTPN2 (P17706)
Y48* (p.Tyr48Ter) in PTPN2 (P17706) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
Y48* (p.Tyr48Ter) variant details
- p.Tyr48Ter
- TOPMed rs1191212687
- gnomAD rs1191212687
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.834
- CADD 34.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available