D2Y (p.Asp2Tyr) variant of PAX5 (Paired box protein Pax-5)
D2Y (p.Asp2Tyr) in PAX5 (Paired box protein Pax-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data.
D2Y (p.Asp2Tyr) variant details
- p.Asp2Tyr
- cosmic curated COSV10467
- 1000Genomes rs1841280101
- TOPMed rs1841280101
- gnomAD rs1841280101
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.54
- MetaLR 0.91
- MetaSVM 1.01
- CADD 28.40
- PolyPhen-2 0.42
- SIFT 0.00
- Population evidence available