T21Q (p.Thr21Gln) variant of PTH (Parathyroid hormone)
T21Q (p.Thr21Gln) in PTH (Parathyroid hormone) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
T21Q (p.Thr21Gln) variant details
- p.Thr21Gln
- gnomAD 11-13492794-GT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.64
- CADD 22.80
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available