P93S (p.Pro93Ser) variant of PAX5 (Paired box protein Pax-5)
P93S (p.Pro93Ser) 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 0.81 / 1. The record also includes population frequency data.
P93S (p.Pro93Ser) variant details
- p.Pro93Ser
- cosmic curated COSV10527
- Ensembl rs2132472130
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.76
- MetaLR 0.99
- MetaSVM 1.03
- CADD 27.70
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)