I115V (p.Ile115Val) variant of PTPN2 (P17706)
I115V (p.Ile115Val) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
I115V (p.Ile115Val) variant details
- p.Ile115Val
- rs1598716290
- gnomAD 18-12788134-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- CADD 4.39
- Most common in the REMAINING population (allele frequency 0.0052)
- Structural context available
- Literature evidence available