E43D (p.Glu43Asp) variant of NFKBIA (NF-kappa-B inhibitor alpha)
E43D (p.Glu43Asp) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
E43D (p.Glu43Asp) variant details
- p.Glu43Asp
- Ensembl rs2052768071
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.07
- MetaLR 0.30
- MetaSVM -0.71
- CADD 21.00
- PolyPhen-2 0.15
- SIFT 0.34
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available