L16P (p.Leu16Pro) variant of CYBB (NADPH oxidase 2)
L16P (p.Leu16Pro) 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 0.82 / 1. The record also includes published literature and structural context.
L16P (p.Leu16Pro) variant details
- p.Leu16Pro
- rs2146803094
- ClinGen CA412972259
- ClinVar RCV002243550
- Ensembl rs2146803094
- Uncertain significance
- Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- AlphaMissense 0.96
- MetaLR 0.83
- MetaSVM 0.79
- PolyPhen-2 0.88
- SIFT 0.00
- EVE 0.70
- ClinVar: Uncertain significance (Granulomatous disease, chronic, X-linked)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)