E41A (p.Glu41Ala) variant of NFKBIA (NF-kappa-B inhibitor alpha)
E41A (p.Glu41Ala) 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 0.35 / 1. The record also includes population frequency data and structural context.
E41A (p.Glu41Ala) variant details
- p.Glu41Ala
- TOPMed rs1406848304
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.23
- MetaLR 0.41
- MetaSVM -0.22
- CADD 24.40
- PolyPhen-2 0.11
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available