S63W (p.Ser63Trp) variant of NFKBIA (NF-kappa-B inhibitor alpha)
S63W (p.Ser63Trp) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
S63W (p.Ser63Trp) variant details
- p.Ser63Trp
- 1000Genomes rs376762724
- ESP rs376762724
- ExAC rs376762724
- TOPMed rs376762724
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.09
- MetaLR 0.08
- MetaSVM -1.02
- CADD 20.40
- PolyPhen-2 0.18
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available