Y23F (p.Tyr23Phe) variant of PTH1R (Q03431)
Y23F (p.Tyr23Phe) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
Y23F (p.Tyr23Phe) variant details
- p.Tyr23Phe
- gnomAD 3-46883627-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.07
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available