V143I (p.Val143Ile) variant of PTPN2 (P17706)
V143I (p.Val143Ile) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
V143I (p.Val143Ile) variant details
- p.Val143Ile
- rs1272020535
- gnomAD 18-12788116-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0834
- CADD 0.39
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available