S36F (p.Ser36Phe) variant of NFKBIA (NF-kappa-B inhibitor alpha)
S36F (p.Ser36Phe) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
S36F (p.Ser36Phe) variant details
- p.Ser36Phe
- Ensembl rs1566591076
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.75
- AlphaMissense 0.93
- MetaLR 0.80
- MetaSVM 0.81
- CADD 30.00
- PolyPhen-2 1.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available