T12N (p.Thr12Asn) variant of PAX5 (Paired box protein Pax-5)
T12N (p.Thr12Asn) 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 0.50 / 1. The record also includes population frequency data.
T12N (p.Thr12Asn) variant details
- p.Thr12Asn
- TOPMed rs1841276454
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.38
- MetaLR 0.74
- MetaSVM 0.63
- CADD 21.80
- PolyPhen-2 0.07
- SIFT 0.30
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.6e-05)