R39Q (p.Arg39Gln) variant of DDC (P20711)
R39Q (p.Arg39Gln) in DDC (P20711) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R39Q (p.Arg39Gln) variant details
- p.Arg39Gln
- rs376647978
- ClinGen CA4262496
- ClinVar RCV001967972
- ESP rs376647978
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.29
- CADD 24.20
- PolyPhen-2 0.52
- SIFT 0.07
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)