E11D (p.Glu11Asp) variant of PTPN2 (P17706)
E11D (p.Glu11Asp) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
E11D (p.Glu11Asp) variant details
- p.Glu11Asp
- TOPMed rs1395399977
- gnomAD rs1395399977
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.06
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available