R114T (p.Arg114Thr) variant of PTPN2 (P17706)
R114T (p.Arg114Thr) in PTPN2 (P17706) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R114T (p.Arg114Thr) variant details
- p.Arg114Thr
- rs777156011
- gnomAD 18-12793538-GTTTC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.218
- CADD 8.85
- Population evidence available
- Structural context available
- Literature evidence available