A78S (p.Ala78Ser) variant of DDC (P20711)
A78S (p.Ala78Ser) in DDC (P20711) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
A78S (p.Ala78Ser) variant details
- p.Ala78Ser
- rs140276979
- ClinGen CA4262441
- ClinVar RCV001221294
- ClinVar RCV002562523
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.44
- CADD 26.00
- PolyPhen-2 0.97
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-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)