I82I (p.Ile82Ile) variant of NFKB2 (Q00653)
I82I (p.Ile82Ile) in NFKB2 (Q00653) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
I82I (p.Ile82Ile) variant details
- p.Ile82Ile
- gnomAD 10-102396906-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.405
- CADD 16.40
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available