S2N (p.Ser2Asn) variant of TOP1 (DNA topoisomerase 1)
S2N (p.Ser2Asn) 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, published literature, and structural context.
S2N (p.Ser2Asn) variant details
- p.Ser2Asn
- gnomAD 20-41029072-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.10
- MetaLR 0.09
- MetaSVM -1.04
- CADD 26.70
- PolyPhen-2 0.83
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available