E81E (p.Glu81Glu) variant of TPO (Thyroid peroxidase)
E81E (p.Glu81Glu) in TPO (Thyroid peroxidase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and published literature.
E81E (p.Glu81Glu) variant details
- p.Glu81Glu
- rs1714144043
- gnomAD 3-184373580-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.293
- CADD 13.90
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Literature evidence available