E14Q (p.Glu14Gln) variant of NFKB2 (Q00653)
E14Q (p.Glu14Gln) in NFKB2 (Q00653) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
E14Q (p.Glu14Gln) variant details
- p.Glu14Gln
- 1000Genomes rs45581936
- ESP rs45581936
- ExAC rs45581936
- TOPMed rs45581936
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- CADD 22.90
- PolyPhen-2 0.08
- SIFT 0.09
- EBI: Benign (in dbSNP:rs45581936)
- UniProt: Benign (in dbSNP:rs45581936)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available