R39P (p.Arg39Pro) variant of DDC (P20711)
R39P (p.Arg39Pro) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R39P (p.Arg39Pro) variant details
- p.Arg39Pro
- rs376647978
- ClinGen CA158234569
- ClinVar RCV001316040
- ESP rs376647978
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.64
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.01
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)