T90S (p.Thr90Ser) variant of NFKBIA (NF-kappa-B inhibitor alpha)
T90S (p.Thr90Ser) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. Clinical records from ClinVar 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 and structural context.
T90S (p.Thr90Ser) variant details
- p.Thr90Ser
- TOPMed rs954063319
- gnomAD rs954063319
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.08
- MetaLR 0.18
- MetaSVM -0.88
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available