A124A (p.Ala124Ala) variant of PTPN2 (P17706)
A124A (p.Ala124Ala) in PTPN2 (P17706) is a synonymous 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.
A124A (p.Ala124Ala) variant details
- p.Ala124Ala
- rs1218681401
- gnomAD 18-12788117-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.124
- CADD 6.09
- Most common in the Latino/Admixed American population (allele frequency 0.0018)
- Structural context available
- Literature evidence available