N113K (p.Asn113Lys) variant of PTPN2 (P17706)
N113K (p.Asn113Lys) in PTPN2 (P17706) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
N113K (p.Asn113Lys) variant details
- p.Asn113Lys
- rs1323690490
- gnomAD 18-12793534-TTTTG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.111
- CADD 4.97
- Population evidence available
- Structural context available
- Literature evidence available