P65S (p.Pro65Ser) variant of NFKBIA (NF-kappa-B inhibitor alpha)
P65S (p.Pro65Ser) 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 0.32 / 1. The record also includes population frequency data and structural context.
P65S (p.Pro65Ser) variant details
- p.Pro65Ser
- cosmic curated COSV53751
- ExAC rs778206898
- TOPMed rs778206898
- gnomAD rs778206898
- Uncertain significance
- Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.08
- MetaLR 0.14
- MetaSVM -0.88
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.25
- ClinVar: Uncertain significance (Ectodermal dysplasia and immunodeficiency 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5.2e-05)
- Structural context available