Y7H (p.Tyr7His) variant of PAX5 (Paired box protein Pax-5)
Y7H (p.Tyr7His) in PAX5 (Paired box protein Pax-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
Y7H (p.Tyr7His) variant details
- p.Tyr7His
- cosmic curated COSV63910
- gnomAD rs1193338656
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.43
- MetaLR 0.87
- MetaSVM 1.10
- CADD 22.80
- PolyPhen-2 0.30
- SIFT 0.19
- Population evidence available