Q37* (p.Gln37Ter) variant of PTH (Parathyroid hormone)
Q37* (p.Gln37Ter) in PTH (Parathyroid hormone) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
Q37* (p.Gln37Ter) variant details
- p.Gln37Ter
- cosmic curated COSV56378
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.629
- CADD 38.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available