H45H (p.His45His) variant of PTH (Parathyroid hormone)
H45H (p.His45His) in PTH (Parathyroid hormone) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
H45H (p.His45His) variant details
- p.His45His
- rs149916515
- gnomAD 11-13492618-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.133
- CADD 7.45
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available