C95* (p.Cys95Ter) variant of DDC (P20711)
C95* (p.Cys95Ter) in DDC (P20711) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
C95* (p.Cys95Ter) variant details
- p.Cys95Ter
- rs748439275
- ClinGen CA4262428
- ClinVar RCV001780918
- ExAC rs748439275
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.26
- CADD 25.30
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)