R7* (p.Arg7Ter) variant of DDC (P20711)
R7* (p.Arg7Ter) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R7* (p.Arg7Ter) variant details
- p.Arg7Ter
- rs138828136
- ClinGen CA4262519
- cosmic curated COSV63565
- ClinVar RCV001336994
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.461
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)