R114K (p.Arg114Lys) variant of PTPN2 (P17706)
R114K (p.Arg114Lys) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
R114K (p.Arg114Lys) variant details
- p.Arg114Lys
- rs747603845
- gnomAD 18-12788145-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- CADD 5.33
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available