A16K (p.Ala16Lys) variant of PTH (Parathyroid hormone)
A16K (p.Ala16Lys) in PTH (Parathyroid hormone) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The record also includes structural context.
A16K (p.Ala16Lys) variant details
- p.Ala16Lys
- rs2134093283
- ClinGen CA2573053455
- ClinVar RCV001817693
- Ensembl rs2134093283
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available