D39E (p.Asp39Glu) variant of NFKBIA (NF-kappa-B inhibitor alpha)
D39E (p.Asp39Glu) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Ectodermal dysplasia and immunodeficiency 2. 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.
D39E (p.Asp39Glu) variant details
- p.Asp39Glu
- rs753085459
- ClinGen CA7155593
- ClinVar RCV001238140
- ClinVar RCV005443280
- Uncertain significance
- Inborn genetic diseases; Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.38
- MetaLR 0.34
- MetaSVM -0.70
- CADD 13.20
- PolyPhen-2 0.02
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Ectodermal dysplasia and immunodeficien)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-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)