I25V (p.Ile25Val) variant of PTPN2 (P17706)
I25V (p.Ile25Val) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
I25V (p.Ile25Val) variant details
- p.Ile25Val
- TOPMed rs1285609315
- gnomAD rs1285609315
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.09
- CADD 23.00
- PolyPhen-2 0.10
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available