L6V (p.Leu6Val) variant of TOP1 (DNA topoisomerase 1)
L6V (p.Leu6Val) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L6V (p.Leu6Val) variant details
- p.Leu6Val
- gnomAD 20-41029083-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.04
- MetaLR 0.03
- MetaSVM -1.02
- CADD 21.90
- PolyPhen-2 0.10
- SIFT 0.73
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available