A7A (p.Ala7Ala) variant of PTH1R (Q03431)
A7A (p.Ala7Ala) in PTH1R (Q03431) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A7A (p.Ala7Ala) variant details
- p.Ala7Ala
- rs1202762678
- gnomAD 3-46883580-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 16.20
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available