L70V (p.Leu70Val) variant of NFKBIA (NF-kappa-B inhibitor alpha)
L70V (p.Leu70Val) 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 0.30 / 1. The record also includes population frequency data and structural context.
L70V (p.Leu70Val) variant details
- p.Leu70Val
- rs755146648
- ClinGen CA7155574
- ClinVar RCV003514163
- ExAC rs755146648
- Uncertain significance
- Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.15
- MetaLR 0.09
- MetaSVM -0.91
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Ectodermal dysplasia and immunodeficiency 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available