P8A (p.Pro8Ala) variant of PAX5 (Paired box protein Pax-5)
P8A (p.Pro8Ala) in PAX5 (Paired box protein Pax-5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
P8A (p.Pro8Ala) variant details
- p.Pro8Ala
- cosmic curated COSV10527
- 1000Genomes rs1466879183
- TOPMed rs1466879183
- gnomAD rs1466879183
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.27
- MetaLR 0.79
- MetaSVM 0.31
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:JPT population (allele frequency 0.0051)