Y7S (p.Tyr7Ser) variant of PAX5 (Paired box protein Pax-5)
Y7S (p.Tyr7Ser) in PAX5 (Paired box protein Pax-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
Y7S (p.Tyr7Ser) variant details
- p.Tyr7Ser
- Ensembl rs1841278354
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.33
- AlphaMissense 0.06
- MetaLR 0.78
- MetaSVM 0.42
- CADD 22.90
- PolyPhen-2 0.00
- Population evidence available