E78del (p.Glu78del) variant of TPO (Thyroid peroxidase)
E78del (p.Glu78del) in TPO (Thyroid peroxidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and published literature.
E78del (p.Glu78del) variant details
- gnomAD 3-184373576-TCTC-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.327
- CADD 19.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available