F80C (p.Phe80Cys) variant of DDC (P20711)
F80C (p.Phe80Cys) in DDC (P20711) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
F80C (p.Phe80Cys) variant details
- p.Phe80Cys
- rs2535490754
- ClinGen CA367529814
- ClinVar RCV003043481
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)