S13G (p.Ser13Gly) variant of PAX5 (Paired box protein Pax-5)
S13G (p.Ser13Gly) 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 0.33 / 1. The record also includes population frequency data.
S13G (p.Ser13Gly) variant details
- p.Ser13Gly
- rs1338245101
- gnomAD rs1338245101
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.24
- AlphaMissense 0.06
- MetaLR 0.70
- MetaSVM 0.07
- CADD 18.50
- PolyPhen-2 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)