T92I (p.Thr92Ile) variant of PAX5 (Paired box protein Pax-5)
T92I (p.Thr92Ile) in PAX5 (Paired box protein Pax-5) 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 0.84 / 1. The record also includes population frequency data.
T92I (p.Thr92Ile) variant details
- p.Thr92Ile
- TOPMed rs1839283277
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.81
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.08
- CADD 28.40
- PolyPhen-2 0.95
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)