p.Ser110 Phe111del variant of PTPN2 (P17706)
p.Ser110 Phe111del in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ser110 Phe111del variant details
- rs2041047237
- gnomAD 18-12793528-AAAAA
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.682
- CADD 7.89
- Population evidence available
- Structural context available
- Literature evidence available