E104K (p.Glu104Lys) variant of PCSK1 (Neuroendocrine convertase 1)
E104K (p.Glu104Lys) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The record also includes structural context.
E104K (p.Glu104Lys) variant details
- p.Glu104Lys
- cosmic curated COSV10513
- gnomAD rs1403500864
- Missense
- Structural context available