D2N (p.Asp2Asn) variant of PAX5 (Paired box protein Pax-5)
D2N (p.Asp2Asn) in PAX5 (Paired box protein Pax-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
D2N (p.Asp2Asn) variant details
- p.Asp2Asn
- cosmic curated COSV63912
- 1000Genomes rs1841280101
- TOPMed rs1841280101
- gnomAD rs1841280101
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.39
- MetaLR 0.88
- MetaSVM 0.78
- CADD 25.10
- PolyPhen-2 0.05
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 2.5e-05)