P43R (p.Pro43Arg) variant of DDC (P20711)
P43R (p.Pro43Arg) 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 0.52 / 1. The record also includes published literature and structural context.
P43R (p.Pro43Arg) variant details
- p.Pro43Arg
- rs2044719409
- ClinGen CA367531839
- ClinVar RCV001212124
- Ensembl rs2044719409
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- AlphaMissense 0.47
- MetaLR 0.37
- MetaSVM -0.20
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)