D32Y (p.Asp32Tyr) variant of DDC (P20711)
D32Y (p.Asp32Tyr) 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.
D32Y (p.Asp32Tyr) variant details
- p.Asp32Tyr
- rs2535521337
- ClinGen CA367531994
- ClinVar RCV002825388
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)