D2E (p.Asp2Glu) variant of PAX5 (Paired box protein Pax-5)
D2E (p.Asp2Glu) in PAX5 (Paired box protein Pax-5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
D2E (p.Asp2Glu) variant details
- p.Asp2Glu
- rs139701864
- ClinGen CA161358
- cosmic curated COSV10744
- ClinVar RCV000121764
- Benign/Likely benign
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.28
- MetaLR 0.77
- MetaSVM 0.30
- CADD 22.40
- SIFT 0.62
- ClinVar: Benign/Likely benign (not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Population evidence available