P47A (p.Pro47Ala) variant of DDC (P20711)
P47A (p.Pro47Ala) in DDC (P20711) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in AADCD. The record also includes published literature and structural context.
P47A (p.Pro47Ala) variant details
- p.Pro47Ala
- rs2535520536
- ClinVar RCV004595867
- Uncertain significance
- in AADCD
- Missense
- EBI: Variant of uncertain significance (in AADCD)
- UniProt: Uncertain significance (in AADCD)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)