G24V (p.Gly24Val) variant of PAX5 (Paired box protein Pax-5)
G24V (p.Gly24Val) in PAX5 (Paired box protein Pax-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data and structural context.
G24V (p.Gly24Val) variant details
- p.Gly24Val
- TOPMed rs936072547
- gnomAD rs936072547
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- REVEL 0.97
- MetaLR 0.99
- MetaSVM 0.96
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available