T3I (p.Thr3Ile) variant of PTPN2 (P17706)
T3I (p.Thr3Ile) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
T3I (p.Thr3Ile) variant details
- p.Thr3Ile
- TOPMed rs1276711486
- gnomAD rs1276711486
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.02
- CADD 12.40
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available