K105* (p.Lys105Ter) variant of PTPN2 (P17706)
K105* (p.Lys105Ter) in PTPN2 (P17706) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
K105* (p.Lys105Ter) variant details
- p.Lys105Ter
- gnomAD 18-12793561-T-TA
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.275
- CADD 11.20
- Most common in the Non-Finnish European population (allele frequency 5.3e-06)
- Structural context available
- Literature evidence available