S84N (p.Ser84Asn) variant of DDC (P20711)
S84N (p.Ser84Asn) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S84N (p.Ser84Asn) variant details
- p.Ser84Asn
- rs2044566817
- ClinGen CA367529754
- ClinVar RCV001929857
- ClinVar RCV005923908
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.07
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Aromatic L-Amino Acid Decarboxylase Deficiency. (PMID 37824694)