E50D (p.Glu50Asp) variant of PTH (Parathyroid hormone)
E50D (p.Glu50Asp) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
E50D (p.Glu50Asp) variant details
- p.Glu50Asp
- gnomAD 11-13492603-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.24
- MetaLR 0.35
- MetaSVM -0.77
- CADD 8.80
- PolyPhen-2 0.01
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available