I12T (p.Ile12Thr) variant of NFKB2 (Q00653)
I12T (p.Ile12Thr) in NFKB2 (Q00653) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
I12T (p.Ile12Thr) variant details
- p.Ile12Thr
- TOPMed rs2061110488
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- CADD 21.90
- PolyPhen-2 0.06
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available