H69P (p.His69Pro) variant of TOP1 (DNA topoisomerase 1)
H69P (p.His69Pro) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
H69P (p.His69Pro) variant details
- p.His69Pro
- ExAC rs751566633
- TOPMed rs751566633
- gnomAD rs751566633
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.06
- MetaLR 0.05
- MetaSVM -1.14
- CADD 25.20
- PolyPhen-2 0.60
- SIFT 0.12
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available