S13T (p.Ser13Thr) variant of PAX5 (Paired box protein Pax-5)
S13T (p.Ser13Thr) 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 0.38 / 1. The record also includes population frequency data.
S13T (p.Ser13Thr) variant details
- p.Ser13Thr
- NCI-TCGA Cosmic COSV6391
- gnomAD rs1249107807
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.25
- MetaLR 0.81
- MetaSVM -0.13
- CADD 20.20
- PolyPhen-2 0.01
- SIFT 0.51
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available