T69M (p.Thr69Met) variant of DDC (P20711)
T69M (p.Thr69Met) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
T69M (p.Thr69Met) variant details
- p.Thr69Met
- rs777956037
- ClinGen CA4262447
- NCI-TCGA Cosmic COSV6356
- cosmic curated COSV63565
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.83
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)