A12T (p.Ala12Thr) variant of NFKBIA (NF-kappa-B inhibitor alpha)
A12T (p.Ala12Thr) in NFKBIA (NF-kappa-B inhibitor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A12T (p.Ala12Thr) variant details
- p.Ala12Thr
- Ensembl rs2138834385
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.36
- MetaLR 0.24
- MetaSVM -0.61
- CADD 22.30
- PolyPhen-2 0.07
- SIFT 0.63
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available