E24A (p.Glu24Ala) variant of PTPN2 (P17706)
E24A (p.Glu24Ala) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E24A (p.Glu24Ala) variant details
- p.Glu24Ala
- ExAC rs748912308
- gnomAD rs748912308
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.18
- CADD 25.10
- PolyPhen-2 0.10
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available