T362K (p.Thr362Lys) variant of CYBB (NADPH oxidase 2)
T362K (p.Thr362Lys) in CYBB (NADPH oxidase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Granulomatous disease, chronic, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
T362K (p.Thr362Lys) variant details
- p.Thr362Lys
- rs1569479953
- ClinGen CA412977436
- ClinVar RCV001066214
- Ensembl rs1569479953
- Uncertain significance
- Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.947
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Uncertain significance (Granulomatous disease, chronic, X-linked)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)