K36R (p.Lys36Arg) variant of TOP1 (DNA topoisomerase 1)
K36R (p.Lys36Arg) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
K36R (p.Lys36Arg) variant details
- p.Lys36Arg
- gnomAD rs1246537609
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.11
- MetaLR 0.11
- MetaSVM -1.05
- CADD 23.40
- PolyPhen-2 0.90
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available