G23V (p.Gly23Val) variant of DDC (P20711)
G23V (p.Gly23Val) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G23V (p.Gly23Val) variant details
- p.Gly23Val
- rs2044722637
- ClinGen CA367532096
- ClinVar RCV002471920
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.17
- CADD 22.40
- PolyPhen-2 0.10
- SIFT 0.02
- EBI: Likely pathogenic
- UniProt: Likely 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)