A3T (p.Ala3Thr) variant of DDC (P20711)
A3T (p.Ala3Thr) in DDC (P20711) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- rs766408460
- ClinGen CA4262523
- ClinVar RCV001163926
- ClinVar RCV002558579
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0551
- REVEL 0.05
- CADD 0.00
- PolyPhen-2 0.01
- SIFT 0.30
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00015)
- 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)