E11Q (p.Glu11Gln) variant of PTPN2 (P17706)
E11Q (p.Glu11Gln) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
E11Q (p.Glu11Gln) variant details
- p.Glu11Gln
- cosmic curated COSV10051
- 1000Genomes rs200164592
- ExAC rs200164592
- TOPMed rs200164592
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.10
- CADD 20.70
- PolyPhen-2 0.01
- SIFT 0.23
- Most common in the HGDP:TUJIA population (allele frequency 0.05)
- Structural context available