H45Y (p.His45Tyr) variant of PTH (Parathyroid hormone)
H45Y (p.His45Tyr) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
H45Y (p.His45Tyr) variant details
- p.His45Tyr
- gnomAD 11-13492620-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.54
- MetaLR 0.51
- MetaSVM 0.08
- CADD 19.90
- PolyPhen-2 0.43
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available