R31Q (p.Arg31Gln) variant of TOP1 (DNA topoisomerase 1)
R31Q (p.Arg31Gln) 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.
R31Q (p.Arg31Gln) variant details
- p.Arg31Gln
- ExAC rs779948444
- gnomAD rs779948444
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.10
- MetaLR 0.03
- MetaSVM -1.02
- CADD 24.40
- PolyPhen-2 0.06
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available