A78T (p.Ala78Thr) variant of DDC (P20711)
A78T (p.Ala78Thr) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
A78T (p.Ala78Thr) variant details
- p.Ala78Thr
- rs140276979
- ClinGen CA158234093
- cosmic curated COSV63565
- ClinVar RCV001993466
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.65
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)