P40L (p.Pro40Leu) variant of PTPN2 (P17706)
P40L (p.Pro40Leu) 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.
P40L (p.Pro40Leu) variant details
- p.Pro40Leu
- gnomAD rs1172950151
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.12
- CADD 23.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available