L70P (p.Leu70Pro) variant of NFKBIA (NF-kappa-B inhibitor alpha)
L70P (p.Leu70Pro) 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 0.39 / 1. The record also includes population frequency data and structural context.
L70P (p.Leu70Pro) variant details
- p.Leu70Pro
- rs2052766731
- ClinGen CA389454895
- ClinVar RCV001047488
- Ensembl rs2052766731
- Uncertain significance
- Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.31
- MetaLR 0.35
- MetaSVM -0.31
- CADD 32.00
- PolyPhen-2 0.47
- SIFT 0.01
- ClinVar: Uncertain significance (Ectodermal dysplasia and immunodeficiency 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.9e-05)
- Structural context available