Q37R (p.Gln37Arg) variant of PTH (Parathyroid hormone)
Q37R (p.Gln37Arg) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
Q37R (p.Gln37Arg) variant details
- p.Gln37Arg
- gnomAD 11-13492643-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.88
- MetaLR 0.83
- MetaSVM 0.84
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available