A67A (p.Ala67Ala) variant of PTH (Parathyroid hormone)
A67A (p.Ala67Ala) in PTH (Parathyroid hormone) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A67A (p.Ala67Ala) variant details
- p.Ala67Ala
- rs540157071
- gnomAD 11-13492552-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.306
- CADD 7.38
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available