A100T (p.Ala100Thr) variant of PAX5 (Paired box protein Pax-5)
A100T (p.Ala100Thr) 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 0.67 / 1. The record also includes population frequency data.
A100T (p.Ala100Thr) variant details
- p.Ala100Thr
- rs1313118042
- NCI-TCGA Cosmic COSV6390
- cosmic curated COSV63905
- TOPMed rs1313118042
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.58
- MetaLR 0.96
- MetaSVM 1.11
- CADD 25.30
- PolyPhen-2 0.72
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)