F39C (p.Phe39Cys) variant of PTH1R (Q03431)
F39C (p.Phe39Cys) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
F39C (p.Phe39Cys) variant details
- p.Phe39Cys
- TOPMed rs1470435775
- gnomAD rs1470435775
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.03
- CADD 23.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available