A24A (p.Ala24Ala) variant of PTH1R (Q03431)
A24A (p.Ala24Ala) in PTH1R (Q03431) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
A24A (p.Ala24Ala) variant details
- p.Ala24Ala
- rs1234738292
- gnomAD 3-46883631-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.58
- CADD 14.50
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available