S120R (p.Ser120Arg) variant of PTPN2 (P17706)
S120R (p.Ser120Arg) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
S120R (p.Ser120Arg) variant details
- p.Ser120Arg
- rs2041047618
- gnomAD 18-12793534-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0924
- CADD 1.97
- Population evidence available
- Structural context available
- Literature evidence available