D2H (p.Asp2His) variant of PAX5 (Paired box protein Pax-5)
D2H (p.Asp2His) in PAX5 (Paired box protein Pax-5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
D2H (p.Asp2His) variant details
- p.Asp2His
- cosmic curated COSV10527
- NCI-TCGA Cosmic COSV6391
- 1000Genomes rs1841280101
- TOPMed rs1841280101
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.46
- MetaLR 0.91
- MetaSVM 0.99
- CADD 25.80
- PolyPhen-2 0.26
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:PJL population (allele frequency 0.0055)