R29H (p.Arg29His) variant of NFKBIA (NF-kappa-B inhibitor alpha)
R29H (p.Arg29His) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ectodermal dysplasia and immunodeficiency 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
R29H (p.Arg29His) variant details
- p.Arg29His
- rs754412949
- ClinGen CA389455345
- ClinVar RCV001090524
- ClinVar RCV003629146
- Uncertain significance
- Ectodermal dysplasia and immunodeficiency 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.74
- MetaLR 0.83
- MetaSVM 0.87
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Ectodermal dysplasia and immunodeficiency 2; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available