H22Q (p.His22Gln) variant of TOP1 (DNA topoisomerase 1)
H22Q (p.His22Gln) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
H22Q (p.His22Gln) variant details
- p.His22Gln
- gnomAD 20-41061401-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.18
- MetaLR 0.06
- MetaSVM -1.13
- CADD 22.60
- PolyPhen-2 0.88
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available