S21F (p.Ser21Phe) variant of PTH1R (Q03431)
S21F (p.Ser21Phe) in PTH1R (Q03431) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
S21F (p.Ser21Phe) variant details
- p.Ser21Phe
- rs1358477136
- gnomAD 3-46883619-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.801
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available