P47H (p.Pro47His) variant of DDC (P20711)
P47H (p.Pro47His) in DDC (P20711) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in AADCD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
P47H (p.Pro47His) variant details
- p.Pro47His
- rs780542462
- ClinGen CA4262488
- ClinVar RCV003337943
- UniProt VAR 046137
- Pathogenic
- in AADCD
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.68
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in AADCD)
- UniProt: Pathogenic (in AADCD)
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available
- Cited in: Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. (PMID 15079002)
- Cited in: Levodopa-responsive aromatic L-amino acid decarboxylase deficiency. (PMID 14991824)