G74A (p.Gly74Ala) variant of NFKBIA (NF-kappa-B inhibitor alpha)
G74A (p.Gly74Ala) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Ectodermal dysplasia and immunodeficiency 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
G74A (p.Gly74Ala) variant details
- p.Gly74Ala
- rs763076696
- ClinGen CA7155571
- ClinVar RCV001111174
- ClinVar RCV003918691
- Benign/Likely benign
- Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.63
- MetaLR 0.78
- MetaSVM 0.79
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Benign/Likely benign (Ectodermal dysplasia and immunodeficiency 2)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available