P16A (p.Pro16Ala) variant of NFKBIA (NF-kappa-B inhibitor alpha)
P16A (p.Pro16Ala) 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 0.36 / 1. The record also includes structural context.
P16A (p.Pro16Ala) variant details
- p.Pro16Ala
- rs1439671395
- ClinGen CA389455431
- ClinVar RCV002299047
- Uncertain significance
- Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- AlphaMissense 0.08
- MetaLR 0.23
- MetaSVM -0.65
- PolyPhen-2 0.15
- SIFT 0.03
- MutPred 0.30
- ClinVar: Uncertain significance (Ectodermal dysplasia and immunodeficiency 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available