R39W (p.Arg39Trp) variant of DDC (P20711)
R39W (p.Arg39Trp) in DDC (P20711) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R39W (p.Arg39Trp) variant details
- p.Arg39Trp
- rs151088825
- ClinGen CA4262498
- cosmic curated COSV63567
- ClinVar RCV000479694
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.42
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)