H38N (p.His38Asn) variant of TOP1 (DNA topoisomerase 1)
H38N (p.His38Asn) 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 and structural context.
H38N (p.His38Asn) variant details
- p.His38Asn
- gnomAD rs1273361617
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.08
- MetaLR 0.08
- MetaSVM -1.16
- CADD 24.70
- PolyPhen-2 0.78
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available