E50Q (p.Glu50Gln) variant of PTH (Parathyroid hormone)
E50Q (p.Glu50Gln) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
E50Q (p.Glu50Gln) variant details
- p.Glu50Gln
- gnomAD 11-13492605-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.34
- MetaLR 0.53
- MetaSVM -0.30
- CADD 23.40
- PolyPhen-2 0.61
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available