A18T (p.Ala18Thr) variant of PCSK1 (Neuroendocrine convertase 1)
A18T (p.Ala18Thr) in PCSK1 (Neuroendocrine convertase 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- TOPMed rs1029535554
- gnomAD rs1029535554
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available