A5T (p.Ala5Thr) variant of NFKBIA (NF-kappa-B inhibitor alpha)
A5T (p.Ala5Thr) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- Ensembl rs2138834449
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.06
- MetaLR 0.24
- MetaSVM -0.91
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.11
- Population evidence available
- Structural context available