Y5C (p.Tyr5Cys) variant of NFKB2 (Q00653)
Y5C (p.Tyr5Cys) 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 0.65 / 1. The record also includes population frequency data and structural context.
Y5C (p.Tyr5Cys) variant details
- p.Tyr5Cys
- rs200361192
- ClinGen CA5664401
- ClinVar RCV000817242
- ClinVar RCV003392621
- Uncertain significance
- Immunodeficiency, common variable, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- CADD 27.90
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available