F77L (p.Phe77Leu) variant of DDC (P20711)
F77L (p.Phe77Leu) in DDC (P20711) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
F77L (p.Phe77Leu) variant details
- p.Phe77Leu
- rs751519679
- ClinGen CA367529858
- ClinVar RCV001967473
- ExAC rs751519679
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.20
- CADD 27.30
- PolyPhen-2 0.56
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)