I42T (p.Ile42Thr) variant of NFKB2 (Q00653)
I42T (p.Ile42Thr) in NFKB2 (Q00653) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
I42T (p.Ile42Thr) variant details
- p.Ile42Thr
- gnomAD 10-102396470-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- MetaLR 0.46
- MetaSVM 0.01
- CADD 29.00
- PolyPhen-2 0.92
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available