G124C (p.Gly124Cys) variant of TOP2A (DNA topoisomerase 2-alpha)
G124C (p.Gly124Cys) 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 0.83 / 1. The record also includes population frequency data and structural context.
G124C (p.Gly124Cys) variant details
- p.Gly124Cys
- rs2544422336
- ClinGen CA399352883
- ClinVar RCV004167069
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.86
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available