E50E (p.Glu50Glu) variant of PTH (Parathyroid hormone)
E50E (p.Glu50Glu) in PTH (Parathyroid hormone) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
E50E (p.Glu50Glu) variant details
- p.Glu50Glu
- rs1269833882
- gnomAD 11-13492603-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.116
- CADD 5.00
- Population evidence available
- Structural context available
- Literature evidence available