T4I (p.Thr4Ile) variant of PTPN2 (P17706)
T4I (p.Thr4Ile) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
T4I (p.Thr4Ile) variant details
- p.Thr4Ile
- ExAC rs747486746
- gnomAD rs747486746
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.08
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available