Q28* (p.Gln28Ter) variant of DDC (P20711)
Q28* (p.Gln28Ter) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
Q28* (p.Gln28Ter) variant details
- p.Gln28Ter
- rs755511752
- ClinGen CA4262508
- cosmic curated COSV10077
- ClinVar RCV001880729
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.692
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)