V29I (p.Val29Ile) variant of DDC (P20711)
V29I (p.Val29Ile) in DDC (P20711) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
V29I (p.Val29Ile) variant details
- p.Val29Ile
- rs780962952
- ClinGen CA4262507
- ClinVar RCV002033381
- ExAC rs780962952
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.31
- CADD 24.80
- PolyPhen-2 0.87
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)