E8D (p.Glu8Asp) variant of PTPN2 (P17706)
E8D (p.Glu8Asp) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
E8D (p.Glu8Asp) variant details
- p.Glu8Asp
- ESP rs150641661
- ExAC rs150641661
- TOPMed rs150641661
- gnomAD rs150641661
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.14
- CADD 22.90
- PolyPhen-2 0.24
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available