D53N (p.Asp53Asn) variant of PAX5 (Paired box protein Pax-5)
D53N (p.Asp53Asn) in PAX5 (Paired box protein Pax-5) is a missense change. Clinical records from ClinVar, EBI, 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 0.87 / 1. The record also includes population frequency data.
D53N (p.Asp53Asn) variant details
- p.Asp53Asn
- rs1337956293
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10081
- TOPMed rs1337956293
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.88
- MetaLR 0.99
- MetaSVM 1.03
- CADD 28.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Pathogenic (in dbSNP:rs2132503160)
- UniProt: Pathogenic (in dbSNP:rs2132503160)
- Most common in the REMAINING population (allele frequency 1.7e-05)