I63L (p.Ile63Leu) variant of DDC (P20711)
I63L (p.Ile63Leu) 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.
I63L (p.Ile63Leu) variant details
- p.Ile63Leu
- rs769369623
- ClinGen CA367531341
- ClinVar RCV001313387
- ExAC rs769369623
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.04
- CADD 18.90
- PolyPhen-2 0.03
- SIFT 0.19
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)