E11K (p.Glu11Lys) variant of PTPN2 (P17706)
E11K (p.Glu11Lys) 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.
E11K (p.Glu11Lys) variant details
- p.Glu11Lys
- 1000Genomes rs200164592
- ExAC rs200164592
- TOPMed rs200164592
- gnomAD rs200164592
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.18
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available