A100S (p.Ala100Ser) variant of PAX5 (Paired box protein Pax-5)
A100S (p.Ala100Ser) in PAX5 (Paired box protein Pax-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data.
A100S (p.Ala100Ser) variant details
- p.Ala100Ser
- TOPMed rs1313118042
- gnomAD rs1313118042
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.61
- MetaLR 0.96
- MetaSVM 1.11
- CADD 24.70
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)