Y75F (p.Tyr75Phe) variant of DDC (P20711)
Y75F (p.Tyr75Phe) 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 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
Y75F (p.Tyr75Phe) variant details
- p.Tyr75Phe
- rs754791023
- ClinGen CA4262443
- ClinVar RCV001985356
- ExAC rs754791023
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.06
- CADD 19.00
- PolyPhen-2 0.01
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)