S116N (p.Ser116Asn) variant of DLG4 (Disks large homolog 4)
S116N (p.Ser116Asn) in DLG4 (Disks large homolog 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S116N (p.Ser116Asn) variant details
- p.Ser116Asn
- rs751255727
- ClinGen CA8337210
- ClinVar RCV004376103
- ExAC rs751255727
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.10
- CADD 23.60
- PolyPhen-2 0.70
- SIFT 0.18
- ClinVar: Uncertain significance (Inborn genetic diseases)
- 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: 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)