L25P (p.Leu25Pro) variant of NFKBIA (NF-kappa-B inhibitor alpha)
L25P (p.Leu25Pro) 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 0.44 / 1. The record also includes population frequency data and structural context.
L25P (p.Leu25Pro) variant details
- p.Leu25Pro
- rs758102701
- ClinGen CA7155600
- ClinVar RCV003629373
- ExAC rs758102701
- Uncertain significance
- Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.48
- MetaLR 0.39
- MetaSVM -0.47
- CADD 22.70
- PolyPhen-2 0.37
- SIFT 0.24
- ClinVar: Uncertain significance (Ectodermal dysplasia and immunodeficiency 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.8e-05)
- Structural context available