E8Q (p.Glu8Gln) variant of PTPN2 (P17706)
E8Q (p.Glu8Gln) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
E8Q (p.Glu8Gln) variant details
- p.Glu8Gln
- TOPMed rs1337353757
- gnomAD rs1337353757
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.12
- CADD 24.10
- PolyPhen-2 0.57
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available