H40Y (p.His40Tyr) variant of PTH (Parathyroid hormone)
H40Y (p.His40Tyr) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
H40Y (p.His40Tyr) variant details
- p.His40Tyr
- gnomAD 11-13492635-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.91
- MetaLR 0.87
- MetaSVM 0.90
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available