G16R (p.Gly16Arg) variant of PAX5 (Paired box protein Pax-5)
G16R (p.Gly16Arg) 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 0.88 / 1. The record also includes population frequency data.
G16R (p.Gly16Arg) variant details
- p.Gly16Arg
- NCI-TCGA Cosmic COSV6391
- cosmic curated COSV63914
- cosmic curated COSV63911
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.85
- MetaLR 0.98
- MetaSVM 1.08
- CADD 36.00
- PolyPhen-2 1.00
- SIFT 0.17
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:SARDINIAN population (allele frequency 0.019)