S120* (p.Ser120Ter) variant of PTPN2 (P17706)
S120* (p.Ser120Ter) in PTPN2 (P17706) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
S120* (p.Ser120Ter) variant details
- p.Ser120Ter
- ExAC rs758414586
- gnomAD rs758414586
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.753
- CADD 42.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available