Q37H (p.Gln37His) variant of PTH (Parathyroid hormone)
Q37H (p.Gln37His) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
Q37H (p.Gln37His) variant details
- p.Gln37His
- gnomAD rs1336480236
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.71
- MetaLR 0.80
- MetaSVM 0.68
- CADD 18.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available