A49T (p.Ala49Thr) variant of CYBB (NADPH oxidase 2)
A49T (p.Ala49Thr) in CYBB (NADPH oxidase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Granulomatous disease, chronic, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
A49T (p.Ala49Thr) variant details
- p.Ala49Thr
- rs1556464851
- ClinGen CA412972700
- ClinVar RCV001696923
- ClinVar RCV006556166
- Conflicting interpretations
- not provided; Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.64
- CADD 23.50
- PolyPhen-2 0.91
- SIFT 0.31
- ClinVar: Conflicting classifications of pathogenicity (not provided; Granulomatous disease, chronic, X-linked)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00025)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)