I42L (p.Ile42Leu) variant of NFKB2 (Q00653)
I42L (p.Ile42Leu) in NFKB2 (Q00653) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
I42L (p.Ile42Leu) variant details
- p.Ile42Leu
- gnomAD 10-102396469-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- MetaLR 0.39
- MetaSVM -0.23
- CADD 25.50
- PolyPhen-2 0.39
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available