D73E (p.Asp73Glu) variant of NFKBIA (NF-kappa-B inhibitor alpha)
D73E (p.Asp73Glu) 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 0.36 / 1. The record also includes population frequency data and structural context.
D73E (p.Asp73Glu) variant details
- p.Asp73Glu
- cosmic curated COSV10457
- ESP rs371348054
- ExAC rs371348054
- gnomAD rs371348054
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.23
- MetaLR 0.50
- MetaSVM -0.01
- CADD 26.90
- PolyPhen-2 0.04
- SIFT 0.07
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available