H45L (p.His45Leu) variant of PTH (Parathyroid hormone)
H45L (p.His45Leu) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
H45L (p.His45Leu) variant details
- p.His45Leu
- gnomAD 11-13492619-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.72
- MetaLR 0.68
- MetaSVM 0.47
- CADD 24.10
- PolyPhen-2 0.93
- SIFT 0.06
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available