S20A (p.Ser20Ala) variant of PTH1R (Q03431)
S20A (p.Ser20Ala) in PTH1R (Q03431) is a protein-truncating 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.
S20A (p.Ser20Ala) variant details
- p.Ser20Ala
- gnomAD 3-46883616-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.549
- CADD 28.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available