Q45* (p.Gln45Ter) variant of PTH1R (Q03431)
Q45* (p.Gln45Ter) in PTH1R (Q03431) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
Q45* (p.Gln45Ter) variant details
- p.Gln45Ter
- Ensembl rs200169682
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.854
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-06)
- Structural context available