S85* (p.Ser85Ter) variant of DDC (P20711)
S85* (p.Ser85Ter) in DDC (P20711) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
S85* (p.Ser85Ter) variant details
- p.Ser85Ter
- rs764694805
- ClinGen CA367529737
- ClinVar RCV002903483
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.872
- CADD 41.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)