R38H (p.Arg38His) variant of PAX5 (Paired box protein Pax-5)
R38H (p.Arg38His) 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.
R38H (p.Arg38His) variant details
- p.Arg38His
- NCI-TCGA Cosmic COSV6390
- cosmic curated COSV63906
- Ensembl rs2132503415
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- REVEL 0.97
- MetaLR 1.00
- MetaSVM 0.93
- CADD 29.70
- PolyPhen-2 0.98
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)