T3T (p.Thr3Thr) variant of PTH1R (Q03431)
T3T (p.Thr3Thr) in PTH1R (Q03431) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
T3T (p.Thr3Thr) variant details
- p.Thr3Thr
- rs1228518305
- gnomAD 3-46883568-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.399
- CADD 14.50
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available