D56H (p.Asp56His) variant of PTPN4 (P29074)
D56H (p.Asp56His) in PTPN4 (P29074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
D56H (p.Asp56His) variant details
- p.Asp56His
- TOPMed rs1268115511
- gnomAD rs1268115511
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.25
- MetaLR 0.79
- MetaSVM 0.85
- CADD 28.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available