D59N (p.Asp59Asn) variant of DDC (P20711)
D59N (p.Asp59Asn) in DDC (P20711) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
D59N (p.Asp59Asn) variant details
- p.Asp59Asn
- rs931702374
- ClinGen CA158234563
- NCI-TCGA Cosmic COSV6356
- cosmic curated COSV63563
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.43
- AlphaMissense 0.92
- MetaLR 0.46
- MetaSVM 0.16
- CADD 23.90
- PolyPhen-2 1.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)