D53H (p.Asp53His) variant of PAX5 (Paired box protein Pax-5)
D53H (p.Asp53His) in PAX5 (Paired box protein Pax-5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Neurodevelopmental disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data.
D53H (p.Asp53His) variant details
- p.Asp53His
- rs1337956293
- ClinGen CA373488306
- ClinVar RCV001580197
- TOPMed rs1337956293
- Pathogenic
- Neurodevelopmental disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.94
- MetaLR 0.98
- MetaSVM 1.07
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Neurodevelopmental disorder)
- EBI: Pathogenic (in dbSNP:rs2132503160)
- UniProt: Pathogenic (in dbSNP:rs2132503160)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)