G69R (p.Gly69Arg) variant of PTH (Parathyroid hormone)
G69R (p.Gly69Arg) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
G69R (p.Gly69Arg) variant details
- p.Gly69Arg
- ExAC rs780385257
- TOPMed rs780385257
- gnomAD rs780385257
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.15
- MetaLR 0.40
- MetaSVM -0.74
- CADD 10.70
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available