T67P (p.Thr67Pro) variant of TOP1 (DNA topoisomerase 1)
T67P (p.Thr67Pro) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
T67P (p.Thr67Pro) variant details
- p.Thr67Pro
- TOPMed rs2033725622
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.12
- MetaLR 0.06
- MetaSVM -1.09
- CADD 24.10
- PolyPhen-2 0.84
- SIFT 0.37
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available