F141L (p.Phe141Leu) variant of PTPN2 (P17706)
F141L (p.Phe141Leu) in PTPN2 (P17706) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
F141L (p.Phe141Leu) variant details
- p.Phe141Leu
- rs1223343262
- gnomAD 18-12788085-TAACT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.49
- CADD 3.85
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available