G2G (p.Gly2Gly) variant of PTH1R (Q03431)
G2G (p.Gly2Gly) in PTH1R (Q03431) is a synonymous 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.
G2G (p.Gly2Gly) variant details
- p.Gly2Gly
- rs756013791
- gnomAD 3-46883565-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.554
- CADD 15.00
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available