D6H (p.Asp6His) variant of PTH (Parathyroid hormone)
D6H (p.Asp6His) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
D6H (p.Asp6His) variant details
- p.Asp6His
- gnomAD rs1847493015
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.19
- MetaLR 0.41
- MetaSVM -0.63
- CADD 21.50
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available