D61E (p.Asp61Glu) variant of PTH (Parathyroid hormone)
D61E (p.Asp61Glu) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
D61E (p.Asp61Glu) variant details
- p.Asp61Glu
- gnomAD 11-13492570-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.29
- MetaLR 0.36
- MetaSVM -0.57
- CADD 14.50
- PolyPhen-2 0.03
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available