A16E (p.Ala16Glu) variant of PTH (Parathyroid hormone)
A16E (p.Ala16Glu) in PTH (Parathyroid hormone) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
A16E (p.Ala16Glu) variant details
- p.Ala16Glu
- rs2499940358
- ClinGen CA379724970
- ClinVar RCV003050424
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available