D51N (p.Asp51Asn) variant of DDC (P20711)
D51N (p.Asp51Asn) 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 0.36 / 1. The record also includes published literature and structural context.
D51N (p.Asp51Asn) variant details
- p.Asp51Asn
- rs2153550405
- ClinGen CA367531660
- ClinVar RCV001866296
- Ensembl rs2153550405
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- AlphaMissense 0.18
- MetaLR 0.15
- MetaSVM -0.94
- PolyPhen-2 0.17
- SIFT 0.01
- EVE 0.42
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)