G43E (p.Gly43Glu) variant of PTH (Parathyroid hormone)
G43E (p.Gly43Glu) in PTH (Parathyroid hormone) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hypoparathyroidism, familial isolated 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
G43E (p.Gly43Glu) variant details
- p.Gly43Glu
- cosmic curated COSV10516
- Uncertain significance
- Hypoparathyroidism, familial isolated 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.60
- MetaLR 0.73
- MetaSVM 0.58
- CADD 24.00
- PolyPhen-2 0.71
- SIFT 0.01
- ClinVar: Uncertain significance (Hypoparathyroidism, familial isolated 1)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available