P65L (p.Pro65Leu) variant of NFKBIA (NF-kappa-B inhibitor alpha)
P65L (p.Pro65Leu) 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 0.35 / 1. The record also includes population frequency data and structural context.
P65L (p.Pro65Leu) variant details
- p.Pro65Leu
- rs756648390
- ClinGen CA7155577
- ClinVar RCV001351585
- ExAC rs756648390
- Uncertain significance
- Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.13
- MetaLR 0.13
- MetaSVM -0.83
- CADD 23.50
- PolyPhen-2 0.08
- SIFT 0.01
- ClinVar: Uncertain significance (Ectodermal dysplasia and immunodeficiency 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available