E33Q (p.Glu33Gln) variant of NFKB2 (Q00653)
E33Q (p.Glu33Gln) in NFKB2 (Q00653) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
E33Q (p.Glu33Gln) variant details
- p.Glu33Gln
- gnomAD 10-102396328-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- MetaLR 0.13
- MetaSVM -1.03
- CADD 23.40
- PolyPhen-2 0.71
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available