S29P (p.Ser29Pro) variant of TOP2A (DNA topoisomerase 2-alpha)
S29P (p.Ser29Pro) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S29P (p.Ser29Pro) variant details
- p.Ser29Pro
- Ensembl rs2035395393
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.38
- CADD 28.50
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available