L12G (p.Leu12Gly) variant of PTH1R (Q03431)
L12G (p.Leu12Gly) in PTH1R (Q03431) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
L12G (p.Leu12Gly) variant details
- p.Leu12Gly
- rs2030809154
- gnomAD 3-46883586-C-CCTG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.594
- CADD 26.70
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Literature evidence available