P74T (p.Pro74Thr) variant of DDC (P20711)
P74T (p.Pro74Thr) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
P74T (p.Pro74Thr) variant details
- p.Pro74Thr
- rs1414196907
- ClinGen CA367529915
- ClinVar RCV002681211
- TOPMed rs1414196907
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.78
- AlphaMissense 0.75
- MetaLR 0.54
- MetaSVM 0.41
- CADD 27.80
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)