I52V (p.Ile52Val) variant of NFKBIA (NF-kappa-B inhibitor alpha)
I52V (p.Ile52Val) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
I52V (p.Ile52Val) variant details
- p.Ile52Val
- gnomAD rs1432162067
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.10
- MetaLR 0.08
- MetaSVM -1.04
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available