R38C (p.Arg38Cys) variant of PAX5 (Paired box protein Pax-5)
R38C (p.Arg38Cys) 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 0.92 / 1. The record also includes population frequency data.
R38C (p.Arg38Cys) variant details
- p.Arg38Cys
- NCI-TCGA Cosmic COSV6390
- cosmic curated COSV63908
- TOPMed rs1839780542
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- REVEL 0.95
- MetaLR 1.00
- MetaSVM 0.92
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)