D15Y (p.Asp15Tyr) variant of TOP1 (DNA topoisomerase 1)
D15Y (p.Asp15Tyr) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
D15Y (p.Asp15Tyr) variant details
- p.Asp15Tyr
- gnomAD rs1287804312
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.11
- MetaLR 0.05
- MetaSVM -1.01
- CADD 32.00
- PolyPhen-2 0.67
- SIFT 0.04
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available