P60L (p.Pro60Leu) variant of NFKBIA (NF-kappa-B inhibitor alpha)
P60L (p.Pro60Leu) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Ectodermal dysplasia and immunodeficiency 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P60L (p.Pro60Leu) variant details
- p.Pro60Leu
- rs371482940
- ClinGen CA7155585
- ClinVar RCV001043181
- ClinVar RCV006455362
- Conflicting interpretations
- not specified; Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.04
- MetaLR 0.07
- MetaSVM -1.09
- CADD 10.50
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (not specified; Ectodermal dysplasia and immunodeficiency 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00061)
- Structural context available