S115L (p.Ser115Leu) variant of NFKB2 (Q00653)
S115L (p.Ser115Leu) in NFKB2 (Q00653) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency, common variable, 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
S115L (p.Ser115Leu) variant details
- p.Ser115Leu
- rs758763622
- ClinGen CA5664507
- NCI-TCGA Cosmic COSV5187
- cosmic curated COSV51870
- Uncertain significance
- Immunodeficiency, common variable, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- CADD 22.90
- PolyPhen-2 0.27
- SIFT 0.07
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available