G67E (p.Gly67Glu) variant of DDC (P20711)
G67E (p.Gly67Glu) 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.
G67E (p.Gly67Glu) variant details
- p.Gly67Glu
- rs147802058
- ClinGen CA4262471
- ClinVar RCV002017001
- ESP rs147802058
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.66
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- 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)