S63L (p.Ser63Leu) variant of NFKBIA (NF-kappa-B inhibitor alpha)
S63L (p.Ser63Leu) 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 Ectodermal dysplasia and immunodeficiency 2; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S63L (p.Ser63Leu) variant details
- p.Ser63Leu
- rs376762724
- ClinGen CA7155580
- ClinVar RCV001223634
- ClinVar RCV004960580
- Uncertain significance
- Ectodermal dysplasia and immunodeficiency 2; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.11
- MetaLR 0.06
- MetaSVM -1.08
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Uncertain significance (Ectodermal dysplasia and immunodeficiency 2; Inborn genetic dise)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GWD population (allele frequency 0.0044)
- 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)