D30Y (p.Asp30Tyr) variant of PTH1R (Q03431)
D30Y (p.Asp30Tyr) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
D30Y (p.Asp30Tyr) variant details
- p.Asp30Tyr
- ExAC rs755263801
- gnomAD rs755263801
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.63
- CADD 32.00
- PolyPhen-2 0.57
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available