A124D (p.Ala124Asp) variant of PTPN2 (P17706)
A124D (p.Ala124Asp) 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.
A124D (p.Ala124Asp) variant details
- p.Ala124Asp
- gnomAD 18-12788118-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0947
- CADD 1.98
- Population evidence available
- Structural context available
- Literature evidence available