P8L (p.Pro8Leu) variant of PAX5 (Paired box protein Pax-5)
P8L (p.Pro8Leu) 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 0.55 / 1. The record also includes population frequency data.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- cosmic curated COSV63905
- TOPMed rs1401484095
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.34
- MetaLR 0.84
- MetaSVM 0.76
- CADD 24.90
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)