K23N (p.Lys23Asn) variant of TOP1 (DNA topoisomerase 1)
K23N (p.Lys23Asn) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
K23N (p.Lys23Asn) variant details
- p.Lys23Asn
- TOPMed rs1396729231
- gnomAD rs1396729231
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.09
- MetaLR 0.11
- MetaSVM -1.02
- CADD 27.40
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available