G74R (p.Gly74Arg) variant of NFKBIA (NF-kappa-B inhibitor alpha)
G74R (p.Gly74Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
G74R (p.Gly74Arg) variant details
- p.Gly74Arg
- rs766345843
- ClinGen CA7155572
- ClinVar RCV001297368
- ExAC rs766345843
- Uncertain significance
- Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.59
- MetaLR 0.76
- MetaSVM 0.69
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.06
- ClinVar: Uncertain significance (Ectodermal dysplasia and immunodeficiency 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5.1e-05)
- Structural context available