Y165C (p.Tyr165Cys) variant of TOP2A (DNA topoisomerase 2-alpha)
Y165C (p.Tyr165Cys) 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 0.69 / 1. The record also includes population frequency data and structural context.
Y165C (p.Tyr165Cys) variant details
- p.Tyr165Cys
- rs2544421723
- ClinGen CA399351966
- ClinVar RCV004134421
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.70
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available