A91V (p.Ala91Val) variant of DDC (P20711)
A91V (p.Ala91Val) in DDC (P20711) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in AADCD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A91V (p.Ala91Val) variant details
- p.Ala91Val
- rs137853211
- ClinGen CA127450
- ClinVar RCV000019391
- ClinVar RCV003238725
- Pathogenic
- in AADCD
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.35
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Pathogenic (in AADCD)
- UniProt: Pathogenic (in AADCD)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects… (PMID 31104889)
- Cited in: Levodopa-responsive aromatic L-amino acid decarboxylase deficiency. (PMID 14991824)