G69E (p.Gly69Glu) variant of PTH (Parathyroid hormone)
G69E (p.Gly69Glu) in PTH (Parathyroid hormone) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
G69E (p.Gly69Glu) variant details
- p.Gly69Glu
- rs749037995
- gnomAD 11-13492550-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.385
- CADD 24.20
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available