D9N (p.Asp9Asn) variant of TOP1 (DNA topoisomerase 1)
D9N (p.Asp9Asn) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
D9N (p.Asp9Asn) variant details
- p.Asp9Asn
- Ensembl rs2122577385
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.08
- MetaLR 0.09
- MetaSVM -1.03
- CADD 25.90
- PolyPhen-2 0.96
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available