R22* (p.Arg22Ter) variant of PTPN4 (P29074)
R22* (p.Arg22Ter) in PTPN4 (P29074) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R22* (p.Arg22Ter) variant details
- p.Arg22Ter
- gnomAD 2-119809917-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.474
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available