N21S (p.Asn21Ser) variant of NFKB2 (Q00653)
N21S (p.Asn21Ser) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
N21S (p.Asn21Ser) variant details
- p.Asn21Ser
- rs577190240
- ClinGen CA5664431
- ClinVar RCV001996158
- ClinVar RCV005242148
- Uncertain significance
- Immunodeficiency, common variable, 10; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.66
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 10; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available