H40H (p.His40His) variant of PTH (Parathyroid hormone)
H40H (p.His40His) in PTH (Parathyroid hormone) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
H40H (p.His40His) variant details
- p.His40His
- rs977965204
- gnomAD 11-13492633-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.287
- CADD 7.77
- Population evidence available
- Structural context available
- Literature evidence available