P74A (p.Pro74Ala) variant of DDC (P20711)
P74A (p.Pro74Ala) 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 0.68 / 1. The record also includes published literature and structural context.
P74A (p.Pro74Ala) variant details
- p.Pro74Ala
- rs1414196907
- ClinGen CA367529913
- ClinVar RCV003066025
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- AlphaMissense 0.75
- MetaLR 0.54
- MetaSVM 0.41
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)