P65A (p.Pro65Ala) variant of NFKBIA (NF-kappa-B inhibitor alpha)
P65A (p.Pro65Ala) 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.
P65A (p.Pro65Ala) variant details
- p.Pro65Ala
- rs778206898
- ClinGen CA7155578
- ClinVar RCV001892947
- ExAC rs778206898
- Uncertain significance
- Ectodermal dysplasia and immunodeficiency 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.09
- MetaLR 0.10
- MetaSVM -1.04
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Uncertain significance (Ectodermal dysplasia and immunodeficiency 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available