E160D (p.Glu160Asp) variant of DLG4 (Disks large homolog 4)
E160D (p.Glu160Asp) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and published literature.
E160D (p.Glu160Asp) variant details
- p.Glu160Asp
- rs750247768
- ClinGen CA8337189
- cosmic curated COSV57236
- ClinVar RCV003489662
- Uncertain significance
- Inborn genetic diseases; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.15
- CADD 21.00
- PolyPhen-2 0.10
- SIFT 0.19
- ClinVar: Uncertain significance (Inborn genetic diseases; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- 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)