W71L (p.Trp71Leu) variant of DDC (P20711)
W71L (p.Trp71Leu) 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 0.54 / 1. The record also includes published literature and structural context.
W71L (p.Trp71Leu) variant details
- p.Trp71Leu
- rs1220708031
- ClinGen CA367529957
- cosmic curated COSV63566
- ClinVar RCV001910542
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- AlphaMissense 0.97
- MetaLR 0.38
- MetaSVM -0.06
- 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)