W71S (p.Trp71Ser) variant of DDC (P20711)
W71S (p.Trp71Ser) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
W71S (p.Trp71Ser) variant details
- p.Trp71Ser
- rs1220708031
- ClinGen CA367529959
- ClinVar RCV003021046
- TOPMed rs1220708031
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.80
- AlphaMissense 0.97
- MetaLR 0.38
- MetaSVM -0.06
- CADD 31.00
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)