H96F (p.His96Phe) variant of PTPN2 (P17706)
H96F (p.His96Phe) in PTPN2 (P17706) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
H96F (p.His96Phe) variant details
- p.His96Phe
- gnomAD 18-12793566-TGG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.434
- CADD 8.42
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available
- Literature evidence available