R14G (p.Arg14Gly) variant of PAX5 (Paired box protein Pax-5)
R14G (p.Arg14Gly) in PAX5 (Paired box protein Pax-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data.
R14G (p.Arg14Gly) variant details
- p.Arg14Gly
- ExAC rs763290609
- gnomAD rs763290609
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.60
- AlphaMissense 0.06
- MetaLR 0.75
- MetaSVM 0.09
- CADD 25.10
- PolyPhen-2 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)