V36I (p.Val36Ile) variant of PAX5 (Paired box protein Pax-5)
V36I (p.Val36Ile) 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 0.67 / 1. The record also includes population frequency data.
V36I (p.Val36Ile) variant details
- p.Val36Ile
- ExAC rs570062385
- gnomAD rs570062385
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.50
- AlphaMissense 0.92
- MetaLR 0.96
- MetaSVM 1.08
- CADD 23.60
- PolyPhen-2 0.38
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.0001)