L18S (p.Leu18Ser) variant of TOP1 (DNA topoisomerase 1)
L18S (p.Leu18Ser) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L18S (p.Leu18Ser) variant details
- p.Leu18Ser
- gnomAD 20-41029450-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.04
- MetaLR 0.02
- MetaSVM -1.00
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.41
- Population evidence available
- Structural context available
- Literature evidence available