K21N (p.Lys21Asn) variant of NFKBIA (NF-kappa-B inhibitor alpha)
K21N (p.Lys21Asn) 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 0.47 / 1. The record also includes population frequency data and structural context.
K21N (p.Lys21Asn) variant details
- p.Lys21Asn
- ExAC rs779802553
- TOPMed rs779802553
- gnomAD rs779802553
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.45
- MetaLR 0.72
- MetaSVM 0.47
- CADD 24.00
- PolyPhen-2 0.40
- SIFT 0.04
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available