P74L (p.Pro74Leu) variant of DDC (P20711)
P74L (p.Pro74Leu) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
P74L (p.Pro74Leu) variant details
- p.Pro74Leu
- rs1045841207
- ClinGen CA158234094
- ClinVar RCV001945427
- TOPMed rs1045841207
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.76
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)