H54R (p.His54Arg) variant of TOP1 (DNA topoisomerase 1)
H54R (p.His54Arg) 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.
H54R (p.His54Arg) variant details
- p.His54Arg
- gnomAD rs1357991289
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.04
- MetaLR 0.06
- MetaSVM -1.12
- CADD 23.60
- PolyPhen-2 0.60
- SIFT 0.06
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available