A4A (p.Ala4Ala) variant of PTH1R (Q03431)
A4A (p.Ala4Ala) in PTH1R (Q03431) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A4A (p.Ala4Ala) variant details
- p.Ala4Ala
- gnomAD 3-46883571-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.347
- CADD 15.80
- Population evidence available
- Structural context available
- Literature evidence available