I115T (p.Ile115Thr) variant of PTPN2 (P17706)
I115T (p.Ile115Thr) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
I115T (p.Ile115Thr) variant details
- p.Ile115Thr
- ExAC rs777852241
- TOPMed rs777852241
- gnomAD rs777852241
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.28
- CADD 21.10
- PolyPhen-2 0.02
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available