Q35R (p.Gln35Arg) variant of TOP2A (DNA topoisomerase 2-alpha)
Q35R (p.Gln35Arg) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
Q35R (p.Gln35Arg) variant details
- p.Gln35Arg
- TOPMed rs1416728144
- gnomAD rs1416728144
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.39
- CADD 24.80
- PolyPhen-2 0.35
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available