N22S (p.Asn22Ser) variant of CYBB (NADPH oxidase 2)
N22S (p.Asn22Ser) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes structural context.
N22S (p.Asn22Ser) variant details
- p.Asn22Ser
- rs2146803116
- ClinGen CA412972362
- ClinVar RCV002224679
- Ensembl rs2146803116
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- AlphaMissense 0.76
- MetaLR 0.92
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available