E36Q (p.Glu36Gln) variant of PTH1R (Q03431)
E36Q (p.Glu36Gln) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
E36Q (p.Glu36Gln) variant details
- p.Glu36Gln
- gnomAD 3-46893937-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.47
- CADD 29.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available