E6K (p.Glu6Lys) variant of PTPN2 (P17706)
E6K (p.Glu6Lys) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
E6K (p.Glu6Lys) variant details
- p.Glu6Lys
- ExAC rs778310630
- TOPMed rs778310630
- gnomAD rs778310630
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.19
- CADD 22.70
- PolyPhen-2 0.16
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available