D59H (p.Asp59His) variant of DDC (P20711)
D59H (p.Asp59His) in DDC (P20711) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
D59H (p.Asp59His) variant details
- p.Asp59His
- rs931702374
- ClinGen CA367531461
- ClinVar RCV002045200
- TOPMed rs931702374
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- AlphaMissense 0.92
- MetaLR 0.46
- MetaSVM 0.16
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)