E81K (p.Glu81Lys) variant of TPO (Thyroid peroxidase)
E81K (p.Glu81Lys) in TPO (Thyroid peroxidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and published literature.
E81K (p.Glu81Lys) variant details
- p.Glu81Lys
- rs1264355691
- gnomAD 3-184373579-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- CADD 21.00
- PolyPhen-2 0.06
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Literature evidence available