R7Q (p.Arg7Gln) variant of DDC (P20711)
R7Q (p.Arg7Gln) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R7Q (p.Arg7Gln) variant details
- p.Arg7Gln
- rs200792455
- ClinGen CA4262518
- cosmic curated COSV63564
- ClinVar RCV000347872
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.32
- CADD 24.50
- PolyPhen-2 0.92
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)