N8K (p.Asn8Lys) variant of TOP1 (DNA topoisomerase 1)
N8K (p.Asn8Lys) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
N8K (p.Asn8Lys) variant details
- p.Asn8Lys
- gnomAD 20-41029091-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.15
- MetaLR 0.06
- MetaSVM -1.10
- CADD 23.70
- PolyPhen-2 0.96
- SIFT 0.42
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available