R34Q (p.Arg34Gln) variant of TOP1 (DNA topoisomerase 1)
R34Q (p.Arg34Gln) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R34Q (p.Arg34Gln) variant details
- p.Arg34Gln
- TOPMed rs2033543288
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.10
- MetaLR 0.04
- MetaSVM -1.10
- CADD 24.30
- PolyPhen-2 0.09
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available