A14V (p.Ala14Val) variant of TOP1 (DNA topoisomerase 1)
A14V (p.Ala14Val) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- gnomAD rs1209375262
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.02
- CADD 22.40
- PolyPhen-2 0.15
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available