G96R (p.Gly96Arg) variant of DDC (P20711)
G96R (p.Gly96Arg) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G96R (p.Gly96Arg) variant details
- p.Gly96Arg
- rs1285477390
- ClinGen CA367529579
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10077
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.34
- AlphaMissense 0.94
- MetaLR 0.30
- MetaSVM -0.36
- CADD 25.80
- PolyPhen-2 1.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)