E8V (p.Glu8Val) variant of PTPN2 (P17706)
E8V (p.Glu8Val) 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.
E8V (p.Glu8Val) variant details
- p.Glu8Val
- gnomAD rs1451616383
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.16
- CADD 23.80
- PolyPhen-2 0.18
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)
- Structural context available