I63V (p.Ile63Val) variant of DDC (P20711)
I63V (p.Ile63Val) 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 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
I63V (p.Ile63Val) variant details
- p.Ile63Val
- rs769369623
- ClinGen CA4262473
- ClinVar RCV003027666
- ExAC rs769369623
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.04
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 1.00
- 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)