I82S (p.Ile82Ser) variant of NFKBIA (NF-kappa-B inhibitor alpha)
I82S (p.Ile82Ser) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. 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.
I82S (p.Ile82Ser) variant details
- p.Ile82Ser
- gnomAD rs1351502650
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.82
- MetaLR 0.78
- MetaSVM 0.71
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available