S99C (p.Ser99Cys) variant of NFKB2 (Q00653)
S99C (p.Ser99Cys) 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 0.67 / 1. The record also includes population frequency data.
S99C (p.Ser99Cys) variant details
- p.Ser99Cys
- rs2135429749
- ClinGen CA377896368
- ClinVar RCV001891184
- Ensembl rs2135429749
- Uncertain significance
- Immunodeficiency, common variable, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- CADD 29.10
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)