L6F (p.Leu6Phe) variant of TOP1 (DNA topoisomerase 1)
L6F (p.Leu6Phe) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
L6F (p.Leu6Phe) variant details
- p.Leu6Phe
- ExAC rs773299206
- gnomAD rs773299206
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.06
- MetaLR 0.04
- MetaSVM -1.08
- CADD 22.80
- PolyPhen-2 0.44
- SIFT 0.50
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available