Y126H (p.Tyr126His) variant of PTPN2 (P17706)
Y126H (p.Tyr126His) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
Y126H (p.Tyr126His) variant details
- p.Tyr126His
- TOPMed rs2042436499
- gnomAD rs2042436499
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.93
- CADD 29.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available