A67G (p.Ala67Gly) variant of PTH (Parathyroid hormone)
A67G (p.Ala67Gly) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A67G (p.Ala67Gly) variant details
- p.Ala67Gly
- TOPMed rs1452502191
- gnomAD rs1452502191
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.26
- MetaLR 0.43
- MetaSVM -0.66
- CADD 17.70
- PolyPhen-2 0.03
- SIFT 0.21
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available