G23D (p.Gly23Asp) variant of DDC (P20711)
G23D (p.Gly23Asp) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
G23D (p.Gly23Asp) variant details
- p.Gly23Asp
- rs2044722637
- ClinGen CA367532101
- ClinVar RCV002996829
- TOPMed rs2044722637
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.07
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)