D24H (p.Asp24His) variant of PTH (Parathyroid hormone)
D24H (p.Asp24His) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
D24H (p.Asp24His) variant details
- p.Asp24His
- gnomAD 11-13492786-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.43
- MetaLR 0.62
- MetaSVM 0.34
- CADD 23.20
- PolyPhen-2 0.64
- SIFT 0.05
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available