F80L (p.Phe80Leu) variant of DDC (P20711)
F80L (p.Phe80Leu) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
F80L (p.Phe80Leu) variant details
- p.Phe80Leu
- rs2535490774
- ClinGen CA367529821
- ClinVar RCV002971888
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.70
- CADD 29.60
- PolyPhen-2 0.98
- SIFT 0.00
- 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)