G70S (p.Gly70Ser) variant of PAX5 (Paired box protein Pax-5)
G70S (p.Gly70Ser) 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 0.83 / 1. The record also includes population frequency data.
G70S (p.Gly70Ser) variant details
- p.Gly70Ser
- Ensembl rs2132502875
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.82
- MetaLR 0.96
- MetaSVM 1.12
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.18
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)