P16S (p.Pro16Ser) variant of NFKBIA (NF-kappa-B inhibitor alpha)
P16S (p.Pro16Ser) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P16S (p.Pro16Ser) variant details
- p.Pro16Ser
- TOPMed rs1439671395
- gnomAD rs1439671395
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.14
- AlphaMissense 0.08
- MetaLR 0.23
- MetaSVM -0.65
- CADD 15.30
- PolyPhen-2 0.15
- Most common in the East Asian population (allele frequency 5.7e-05)
- Structural context available