G43R (p.Gly43Arg) variant of PTH (Parathyroid hormone)
G43R (p.Gly43Arg) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G43R (p.Gly43Arg) variant details
- p.Gly43Arg
- ESP rs142613980
- ExAC rs142613980
- TOPMed rs142613980
- gnomAD rs142613980
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.31
- MetaLR 0.53
- MetaSVM -0.25
- CADD 18.40
- PolyPhen-2 0.07
- SIFT 0.18
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available