Q37R (p.Gln37Arg) variant of PTH1R (Q03431)
Q37R (p.Gln37Arg) in PTH1R (Q03431) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
Q37R (p.Gln37Arg) variant details
- p.Gln37Arg
- rs1369706285
- gnomAD 3-46893936-G-GGAA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.545
- CADD 32.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available