Q45K (p.Gln45Lys) variant of PTH1R (Q03431)
Q45K (p.Gln45Lys) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Q45K (p.Gln45Lys) variant details
- p.Gln45Lys
- gnomAD 3-46893964-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.05
- CADD 16.60
- 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