A124S (p.Ala124Ser) variant of PTPN2 (P17706)
A124S (p.Ala124Ser) 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.
A124S (p.Ala124Ser) variant details
- p.Ala124Ser
- rs183599904
- gnomAD 18-12788119-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0978
- CADD 2.42
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available