I57V (p.Ile57Val) variant of DDC (P20711)
I57V (p.Ile57Val) 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
I57V (p.Ile57Val) variant details
- p.Ile57Val
- rs2153550391
- ClinGen CA367531503
- ClinVar RCV001919831
- Ensembl rs2153550391
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.08
- CADD 7.38
- PolyPhen-2 0.00
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)