A91T (p.Ala91Thr) variant of PAX5 (Paired box protein Pax-5)
A91T (p.Ala91Thr) in PAX5 (Paired box protein Pax-5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data.
A91T (p.Ala91Thr) variant details
- p.Ala91Thr
- rs1223489007
- NCI-TCGA Cosmic COSV6391
- cosmic curated COSV63910
- TOPMed rs1223489007
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.68
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 1.06
- CADD 23.70
- PolyPhen-2 0.57
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)