P47T (p.Pro47Thr) variant of DDC (P20711)
P47T (p.Pro47Thr) 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.
P47T (p.Pro47Thr) variant details
- p.Pro47Thr
- rs2535520536
- ClinGen CA367531779
- ClinVar RCV003033434
- 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)