A121T (p.Ala121Thr) variant of NFKB2 (Q00653)
A121T (p.Ala121Thr) 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 0.47 / 1. The record also includes population frequency data and structural context.
A121T (p.Ala121Thr) variant details
- p.Ala121Thr
- rs781738940
- ClinGen CA5664511
- cosmic curated COSV10800
- ClinVar RCV003583472
- Uncertain significance
- Immunodeficiency, common variable, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 1.00
- 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 4.8e-05)
- Structural context available