R11Q (p.Arg11Gln) variant of PAX5 (Paired box protein Pax-5)
R11Q (p.Arg11Gln) 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 0.65 / 1. The record also includes population frequency data.
R11Q (p.Arg11Gln) variant details
- p.Arg11Gln
- ExAC rs759944754
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.46
- MetaLR 0.91
- MetaSVM 0.90
- CADD 26.60
- PolyPhen-2 0.89
- SIFT 0.20
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)