M65I (p.Met65Ile) variant of CYBB (NADPH oxidase 2)
M65I (p.Met65Ile) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
M65I (p.Met65Ile) variant details
- p.Met65Ile
- rs2519192309
- ClinGen CA412972805
- ClinVar RCV003623613
- Uncertain significance
- Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.61
- CADD 23.60
- PolyPhen-2 0.07
- SIFT 0.04
- ClinVar: Uncertain significance (Granulomatous disease, chronic, X-linked)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)