A4P (p.Ala4Pro) variant of PTH1R (Q03431)
A4P (p.Ala4Pro) in PTH1R (Q03431) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A4P (p.Ala4Pro) variant details
- p.Ala4Pro
- gnomAD 3-46883568-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.506
- CADD 29.50
- Population evidence available
- Structural context available
- Literature evidence available