F39Y (p.Phe39Tyr) variant of PTH1R (Q03431)
F39Y (p.Phe39Tyr) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
F39Y (p.Phe39Tyr) variant details
- p.Phe39Tyr
- gnomAD 3-46893947-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.01
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available