A124T (p.Ala124Thr) variant of PTPN2 (P17706)
A124T (p.Ala124Thr) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A124T (p.Ala124Thr) variant details
- p.Ala124Thr
- rs183599904
- gnomAD 18-12788119-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- CADD 3.10
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available
- Literature evidence available