S87L (p.Ser87Leu) variant of CYBB (NADPH oxidase 2)
S87L (p.Ser87Leu) 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 Inborn genetic diseases; Granulomatous disease, chronic, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
S87L (p.Ser87Leu) variant details
- p.Ser87Leu
- rs375346967
- ClinGen CA10383699
- ClinVar RCV003052592
- ClinVar RCV004070189
- Uncertain significance
- Inborn genetic diseases; Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.77
- CADD 24.00
- PolyPhen-2 0.90
- SIFT 0.42
- ClinVar: Uncertain significance (Inborn genetic diseases; Granulomatous disease, chronic, X-linke)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)