R72W (p.Arg72Trp) variant of PAX8 (Paired box protein Pax-8)
R72W (p.Arg72Trp) in PAX8 (Paired box protein Pax-8) 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 0.83 / 1. The record also includes population frequency data and structural context.
R72W (p.Arg72Trp) variant details
- p.Arg72Trp
- NCI-TCGA Cosmic COSV5450
- cosmic curated COSV54507
- TOPMed rs1344770988
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.92
- CADD 29.20
- PolyPhen-2 0.96
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available