A18V (p.Ala18Val) variant of DDC (P20711)
A18V (p.Ala18Val) in DDC (P20711) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Deficiency of aromatic-L-amino-acid decarboxylase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- rs1179044502
- ClinGen CA367532180
- ClinVar RCV001163610
- TOPMed rs1179044502
- Uncertain significance
- Deficiency of aromatic-L-amino-acid decarboxylase
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.25
- CADD 23.70
- PolyPhen-2 0.66
- SIFT 0.09
- ClinVar: Uncertain significance (Deficiency of aromatic-L-amino-acid decarboxylase)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)