H22Y (p.His22Tyr) variant of TOP1 (DNA topoisomerase 1)
H22Y (p.His22Tyr) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
H22Y (p.His22Tyr) variant details
- p.His22Tyr
- Ensembl rs939788315
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.19
- MetaLR 0.10
- MetaSVM -1.10
- CADD 25.20
- PolyPhen-2 0.78
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available