E14K (p.Glu14Lys) variant of NFKB2 (Q00653)
E14K (p.Glu14Lys) in NFKB2 (Q00653) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Immunodeficiency, common variable, 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
E14K (p.Glu14Lys) variant details
- p.Glu14Lys
- rs45581936
- ClinGen CA5664426
- ClinVar RCV000525183
- UniProt VAR 022223
- Benign
- Immunodeficiency, common variable, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- CADD 24.90
- PolyPhen-2 0.03
- SIFT 0.06
- ClinVar: Benign (Immunodeficiency, common variable, 10)
- EBI: Benign (in dbSNP:rs45581936)
- UniProt: Benign (in dbSNP:rs45581936)
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Literature evidence available