E10D (p.Glu10Asp) variant of PTPN2 (P17706)
E10D (p.Glu10Asp) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
E10D (p.Glu10Asp) variant details
- p.Glu10Asp
- gnomAD rs1568185242
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.07
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available