D80A (p.Asp80Ala) variant of PTPN4 (P29074)
D80A (p.Asp80Ala) in PTPN4 (P29074) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
D80A (p.Asp80Ala) variant details
- p.Asp80Ala
- TOPMed rs1677777646
- gnomAD rs1677777646
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.77
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.62
- MetaSVM 0.34
- CADD 24.50
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available