K47R (p.Lys47Arg) variant of NFKBIA (NF-kappa-B inhibitor alpha)
K47R (p.Lys47Arg) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Ectodermal dysplasia and immunodeficiency 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
K47R (p.Lys47Arg) variant details
- p.Lys47Arg
- rs1594427886
- ClinGen CA389455208
- ClinVar RCV000915244
- Ensembl rs1594427886
- Benign
- Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.05
- MetaLR 0.07
- MetaSVM -1.07
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign (Ectodermal dysplasia and immunodeficiency 2)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available