G62S (p.Gly62Ser) variant of NFKBIA (NF-kappa-B inhibitor alpha)
G62S (p.Gly62Ser) 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 0.12 / 1. The record also includes population frequency data and structural context.
G62S (p.Gly62Ser) variant details
- p.Gly62Ser
- rs771568277
- ClinGen CA7155583
- ClinVar RCV003825987
- ExAC rs771568277
- Uncertain significance
- Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.02
- MetaLR 0.05
- MetaSVM -1.07
- CADD 6.90
- PolyPhen-2 0.00
- SIFT 0.71
- ClinVar: Uncertain significance (Ectodermal dysplasia and immunodeficiency 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available