H61Q (p.His61Gln) variant of TOP1 (DNA topoisomerase 1)
H61Q (p.His61Gln) in TOP1 (DNA topoisomerase 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
H61Q (p.His61Gln) variant details
- p.His61Gln
- NCI-TCGA Cosmic COSV6369
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.08
- MetaLR 0.05
- MetaSVM -1.10
- CADD 22.50
- PolyPhen-2 0.60
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available