S84G (p.Ser84Gly) variant of DDC (P20711)
S84G (p.Ser84Gly) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S84G (p.Ser84Gly) variant details
- p.Ser84Gly
- rs772739889
- ClinGen CA4262437
- ClinVar RCV002788504
- ExAC rs772739889
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.06
- CADD 23.40
- PolyPhen-2 0.16
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)